VTN c.1199C>T ;(p.T400M)

Variant ID: 17-26694861-G-A

NM_000638.3(VTN):c.1199C>T;(p.T400M)

This variant was identified in 63 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: VTN: T400M
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Causal effects for genetic variants of osteoprotegerin on the risk of acute myocardial infarction and coronary heart disease: A two-sample Mendelian randomization study.

Frontiers In Cardiovascular Medicine
Chao, Peng P; Zhang, Xueqin X; Zhang, Lei L; Cui, Xinyue X; Wang, Shanshan S; Yang, Yining Y
Publication Date: 2023

Variant appearance in text: rs704
PubMed Link: 36960470
Variant Present in the following documents:
  • Main text
  • fcvm-10-1041231.pdf
View BVdb publication page



The extracellular microenvironment in immune dysregulation and inflammation in retinal disorders.

Frontiers In Immunology
Biasella, Fabiola F; Plössl, Karolina K; Baird, Paul N PN; Weber, Bernhard H F BHF
Publication Date: 2023

Variant appearance in text: rs704
PubMed Link: 36936905
Variant Present in the following documents:
  • Main text
  • fimmu-14-1147037.pdf
View BVdb publication page



Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.

Ophthalmology Science
Seddon, Johanna M JM; Rosner, Bernard B; De, Dikha D; Huan, Tianxiao T; Java, Anuja A; Atkinson, John J
Publication Date: 2023-06

Variant appearance in text: rs704
PubMed Link: 36909148
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Role of Vitronectin and Its Receptors in Neuronal Function and Neurodegenerative Diseases.

International Journal Of Molecular Sciences
Ruzha, Yelizhati Y; Ni, Junjun J; Quan, Zhenzhen Z; Li, Hui H; Qing, Hong H
Publication Date: 2022-10-16

Variant appearance in text: rs704
PubMed Link: 36293243
Variant Present in the following documents:
  • ijms-23-12387.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: VTN: T400M
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
View BVdb publication page



Exosomal telomerase transcripts reprogram the microRNA transcriptome profile of fibroblasts and partially contribute to CAF formation.

Scientific Reports
Likonen, Daniela D; Pinchasi, Maria M; Beery, Einat E; Sarsor, Zinab Z; Signorini, Lorenzo Federico LF; Gervits, Asia A; Sharan, Roded R; Lahav, Meir M; Raanani, Pia P; Uziel, Orit O
Publication Date: 2022-09-30

Variant appearance in text: rs704
PubMed Link: 36180493
Variant Present in the following documents:
  • 41598_2022_Article_20186.pdf
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



A proteogenomic signature of age-related macular degeneration in blood.

Nature Communications
Emilsson, Valur V; Gudmundsson, Elias F EF; Jonmundsson, Thorarinn T; Jonsson, Brynjolfur G BG; Twarog, Michael M; Gudmundsdottir, Valborg V; Li, Zhiguang Z; Finkel, Nancy N; Poor, Stephen S; Liu, Xin X; Esterberg, Robert R; Zhang, Yiyun Y; Jose, Sandra S; Huang, Chia-Ling CL; Liao, Sha-Mei SM; Loureiro, Joseph J; Zhang, Qin Q; Grosskreutz, Cynthia L CL; Nguyen, Andrew A AA; Huang, Qian Q; Leehy, Barrett B; Pitts, Rebecca R; Aspelund, Thor T; Lamb, John R JR; Jonasson, Fridbert F; Launer, Lenore J LJ; Cotch, Mary Frances MF; Jennings, Lori L LL; Gudnason, Vilmundur V; Walshe, Tony E TE
Publication Date: 2022-06-13

Variant appearance in text: rs704
PubMed Link: 35697682
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_31085.pdf
View BVdb publication page



Vitronectin and Its Interaction with PAI-1 Suggests a Functional Link to Vascular Changes in AMD Pathobiology.

Cells
Biasella, Fabiola F; Strunz, Tobias T; Kiel, Christina C; On Behalf Of The International Amd Genomics Consortium Iamdgc, ; Weber, Bernhard H F BHF; Friedrich, Ulrike U
Publication Date: 2022-05-27

Variant appearance in text: VTN: Thr400Met; rs704
PubMed Link: 35681461
Variant Present in the following documents:
  • Main text
  • cells-11-01766.pdf
View BVdb publication page



Pharmacogenetics of Dolutegravir Plasma Exposure Among Southern Africans With Human Immunodeficiency Virus.

The Journal Of Infectious Diseases
Cindi, Zinhle Z; Kawuma, Aida N AN; Maartens, Gary G; Bradford, Yuki Y; Venter, Francois F; Sokhela, Simiso S; Chandiwana, Nomathemba N; Wasmann, Roeland E RE; Denti, Paolo P; Wiesner, Lubbe L; Ritchie, Marylyn D MD; Haas, David W DW; Sinxadi, Phumla P
Publication Date: 2022-11-01

Variant appearance in text: rs704
PubMed Link: 35512135
Variant Present in the following documents:
  • EMS145648-supplement-Supplementary_file.pdf
View BVdb publication page



Neuroblastoma Heterogeneity, Plasticity, and Emerging Therapies.

Current Oncology Reports
Lundberg, Kristina Ihrmark KI; Treis, Diana D; Johnsen, John Inge JI
Publication Date: 2022-08

Variant appearance in text: rs704
PubMed Link: 35362827
Variant Present in the following documents:
  • 11912_2022_Article_1270.pdf
View BVdb publication page



A genome-wide association study of serum proteins reveals shared loci with common diseases.

Nature Communications
Gudjonsson, Alexander A; Gudmundsdottir, Valborg V; Axelsson, Gisli T GT; Gudmundsson, Elias F EF; Jonsson, Brynjolfur G BG; Launer, Lenore J LJ; Lamb, John R JR; Jennings, Lori L LL; Aspelund, Thor T; Emilsson, Valur V; Gudnason, Vilmundur V
Publication Date: 2022-01-25

Variant appearance in text: rs704
PubMed Link: 35078996
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27850.pdf
  • 41467_2021_27850_MOESM1_ESM.pdf
View BVdb publication page



A genome-wide association study of serum proteins reveals shared loci with common diseases.

Nature Communications
Gudjonsson, Alexander A; Gudmundsdottir, Valborg V; Axelsson, Gisli T GT; Gudmundsson, Elias F EF; Jonsson, Brynjolfur G BG; Launer, Lenore J LJ; Lamb, John R JR; Jennings, Lori L LL; Aspelund, Thor T; Emilsson, Valur V; Gudnason, Vilmundur V
Publication Date: 2022-01-25

Variant appearance in text: rs704
PubMed Link: 35078996
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27850.pdf
  • 41467_2021_27850_MOESM1_ESM.pdf
View BVdb publication page



Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.

Journal Of Personalized Medicine
Acar, I Erkin IE; Willems, Esther E; Kersten, Eveline E; Keizer-Garritsen, Jenneke J; Kragt, Else E; Bakker, Bjorn B; Galesloot, Tessel E TE; Hoyng, Carel B CB; Fauser, Sascha S; van Gool, Alain J AJ; Lechanteur, Yara T E YTE; Koertvely, Elod E; Nogoceke, Everson E; Gloerich, Jolein J; de Jonge, Marien I MI; Lorés-Motta, Laura L; den Hollander, Anneke I AI
Publication Date: 2021-11-25

Variant appearance in text: rs704
PubMed Link: 34945728
Variant Present in the following documents:
  • Main text
  • jpm-11-01256.pdf
View BVdb publication page



Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.

Journal Of Personalized Medicine
Acar, I Erkin IE; Willems, Esther E; Kersten, Eveline E; Keizer-Garritsen, Jenneke J; Kragt, Else E; Bakker, Bjorn B; Galesloot, Tessel E TE; Hoyng, Carel B CB; Fauser, Sascha S; van Gool, Alain J AJ; Lechanteur, Yara T E YTE; Koertvely, Elod E; Nogoceke, Everson E; Gloerich, Jolein J; de Jonge, Marien I MI; Lorés-Motta, Laura L; den Hollander, Anneke I AI
Publication Date: 2021-11-25

Variant appearance in text: rs704
PubMed Link: 34945728
Variant Present in the following documents:
  • Main text
  • jpm-11-01256.pdf
View BVdb publication page



PGRMC1-dependent lipophagy promotes ferroptosis in paclitaxel-tolerant persister cancer cells.

Journal Of Experimental & Clinical Cancer Research : Cr
You, Ji Hyeon JH; Lee, Jaewang J; Roh, Jong-Lyel JL
Publication Date: 2021-11-08

Variant appearance in text: rs704
PubMed Link: 34749765
Variant Present in the following documents:
  • 13046_2021_Article_2168.pdf
View BVdb publication page



Periostin secreted by activated fibroblasts in idiopathic pulmonary fibrosis promotes tumorigenesis of non-small cell lung cancer.

Scientific Reports
Yamato, Hiroyuki H; Kimura, Kenji K; Fukui, Eriko E; Kanou, Takashi T; Ose, Naoko N; Funaki, Soichiro S; Minami, Masato M; Shintani, Yasushi Y
Publication Date: 2021-10-26

Variant appearance in text: rs704
PubMed Link: 34702952
Variant Present in the following documents:
  • 41598_2021_Article_717.pdf
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
  • mmc2.xlsx, sheet 3
View BVdb publication page



Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; , ; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2021-10-15

Variant appearance in text: rs704
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2021-10-15

Variant appearance in text: rs704
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Label-free fiber-optic spherical tip biosensor to enable picomolar-level detection of CD44 protein.

Scientific Reports
Bekmurzayeva, Aliya A; Ashikbayeva, Zhannat Z; Myrkhiyeva, Zhuldyz Z; Nugmanova, Aigerim A; Shaimerdenova, Madina M; Ayupova, Takhmina T; Tosi, Daniele D
Publication Date: 2021-10-01

Variant appearance in text: rs704
PubMed Link: 34599251
Variant Present in the following documents:
  • 41598_2021_Article_99099.pdf
View BVdb publication page



Association of GC Variants with Bone Mineral Density and Serum VDBP Concentrations in Mexican Population.

Genes
Rivera-Paredez, Berenice B; Hidalgo-Bravo, Alberto A; León-Reyes, Guadalupe G; Antuna-Puente, Bárbara B; Flores, Yvonne N YN; Salmerón, Jorge J; Velázquez-Cruz, Rafael R
Publication Date: 2021-07-29

Variant appearance in text: rs704
PubMed Link: 34440350
Variant Present in the following documents:
  • genes-12-01176.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: VTN: 1199C>T; T400M; rs704
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: VTN: 1199C>T; T400M; rs704
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs704
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Rare and Common Genetic Variants, Smoking, and Body Mass Index: Progression and Earlier Age of Developing Advanced Age-Related Macular Degeneration.

Investigative Ophthalmology & Visual Science
Seddon, Johanna M JM; Widjajahakim, Rafael R; Rosner, Bernard B
Publication Date: 2020-12-01

Variant appearance in text: rs704
PubMed Link: 33369641
Variant Present in the following documents:
  • iovs-61-14-32_s004.pdf
View BVdb publication page



Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
Publication Date: 2020-12-18

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 33339817
Variant Present in the following documents:
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 4
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Altered Protein Function Caused by AMD-associated Variant rs704 Links Vitronectin to Disease Pathology.

Investigative Ophthalmology & Visual Science
Biasella, Fabiola F; Plössl, Karolina K; Karl, Claudia C; Weber, Bernhard H F BHF; Friedrich, Ulrike U
Publication Date: 2020-12-01

Variant appearance in text: rs704
PubMed Link: 33259607
Variant Present in the following documents:
  • Main text
View BVdb publication page



Influence of vitamin D binding protein polymorphism, demographics and lifestyle factors on vitamin D status of healthy Malaysian pregnant women.

Bmc Pregnancy And Childbirth
Lee, Siew-Siew SS; Ling, King-Hwa KH; Tusimin, Maiza M; Subramaniam, Raman R; Rahim, Kartini Farah KF; Loh, Su-Peng SP
Publication Date: 2020-11-23

Variant appearance in text: rs704
PubMed Link: 33228578
Variant Present in the following documents:
  • Main text
  • 12884_2020_Article_3397.pdf
View BVdb publication page



Causal association between mTOR-dependent EIF-4E and EIF-4A circulating protein levels and type 2 diabetes: a Mendelian randomization study.

Scientific Reports
Soliman, Ghada A GA; Schooling, C Mary CM
Publication Date: 2020-09-25

Variant appearance in text: rs704
PubMed Link: 32978410
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_71987.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.

Investigative Ophthalmology & Visual Science
Merle, Bénédicte M J BMJ; Rosner, Bernard B; Seddon, Johanna M JM
Publication Date: 2020-05-11

Variant appearance in text: rs704
PubMed Link: 32407518
Variant Present in the following documents:
  • Main text
  • iovs-61-5-17.pdf
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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs704
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
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Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology
Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR
Publication Date: 2020-04-01

Variant appearance in text: rs704
PubMed Link: 32049305
Variant Present in the following documents:
  • jamacardiol-5-390-s001.pdf
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Causal Inference for Genetically Determined Levels of High-Density Lipoprotein Cholesterol and Risk of Infectious Disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Trinder, Mark M; Walley, Keith R KR; Boyd, John H JH; Brunham, Liam R LR
Publication Date: 2020-01

Variant appearance in text: rs704
PubMed Link: 31694394
Variant Present in the following documents:
  • atv-40-267-s002.pdf
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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
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The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications
Kuchenbaecker, Karoline K; Telkar, Nikita N; Reiker, Theresa T; Walters, Robin G RG; Lin, Kuang K; Eriksson, Anders A; Gurdasani, Deepti D; Gilly, Arthur A; Southam, Lorraine L; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Seeley, Janet J; Kamali, Anatoli A; Asiki, Gershim G; Millwood, Iona Y IY; Holmes, Michael M; Du, Huaidong H; Guo, Yu Y; Kumari, Meena M; Dedoussis, George G; Li, Liming L; Chen, Zhengming Z; Sandhu, Manjinder S MS; Zeggini, Eleftheria E; ,
Publication Date: 2019-09-24

Variant appearance in text: rs704
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals.

American Journal Of Ophthalmology
Seddon, Johanna M JM; Rosner, Bernard B
Publication Date: 2019-02

Variant appearance in text: rs704
PubMed Link: 30389371
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: VTN: 1199C>T; Thr400Met; rs704
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Co-regulatory networks of human serum proteins link genetics to disease.

Science (New York, N.Y.)
Emilsson, Valur V; Ilkov, Marjan M; Lamb, John R JR; Finkel, Nancy N; Gudmundsson, Elias F EF; Pitts, Rebecca R; Hoover, Heather H; Gudmundsdottir, Valborg V; Horman, Shane R SR; Aspelund, Thor T; Shu, Le L; Trifonov, Vladimir V; Sigurdsson, Sigurdur S; Manolescu, Andrei A; Zhu, Jun J; Olafsson, Örn Ö; Jakobsdottir, Johanna J; Lesley, Scott A SA; To, Jeremy J; Zhang, Jia J; Harris, Tamara B TB; Launer, Lenore J LJ; Zhang, Bin B; Eiriksdottir, Gudny G; Yang, Xia X; Orth, Anthony P AP; Jennings, Lori L LL; Gudnason, Vilmundur V
Publication Date: 2018-08-24

Variant appearance in text: VTN: Thr400Met; rs704
PubMed Link: 30072576
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One
Kim, Stuart K SK
Publication Date: 2018

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 30048462
Variant Present in the following documents:
  • pone.0200785.s003.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics
Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,
Publication Date: 2018-03-06

Variant appearance in text: VTN: 1199C>T; Thr400Met; rs704
PubMed Link: 29510755
Variant Present in the following documents:
  • 12920_2018_338_MOESM6_ESM.xlsx, sheet 2
  • 12920_2018_338_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



A large electronic-health-record-based genome-wide study of serum lipids.

Nature Genetics
Hoffmann, Thomas J TJ; Theusch, Elizabeth E; Haldar, Tanushree T; Ranatunga, Dilrini K DK; Jorgenson, Eric E; Medina, Marisa W MW; Kvale, Mark N MN; Kwok, Pui-Yan PY; Schaefer, Catherine C; Krauss, Ronald M RM; Iribarren, Carlos C; Risch, Neil N
Publication Date: 2018-03

Variant appearance in text: rs704
PubMed Link: 29507422
Variant Present in the following documents:
  • Main text
  • NIHMS936300-supplement-3.pdf
View BVdb publication page



An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

Genome Medicine
Zhao, Junfei J; Cheng, Feixiong F; Jia, Peilin P; Cox, Nancy N; Denny, Joshua C JC; Zhao, Zhongming Z
Publication Date: 2018-01-29

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 29378629
Variant Present in the following documents:
  • 13073_2018_513_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Exome-wide association study of plasma lipids in >300,000 individuals.

Nature Genetics
Liu, Dajiang J DJ; Peloso, Gina M GM; Yu, Haojie H; Butterworth, Adam S AS; Wang, Xiao X; Mahajan, Anubha A; Saleheen, Danish D; Emdin, Connor C; Alam, Dewan D; Alves, Alexessander Couto AC; Amouyel, Philippe P; Di Angelantonio, Emanuele E; Arveiler, Dominique D; Assimes, Themistocles L TL; Auer, Paul L PL; Baber, Usman U; Ballantyne, Christie M CM; Bang, Lia E LE; Benn, Marianne M; Bis, Joshua C JC; Boehnke, Michael M; Boerwinkle, Eric E; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Brandslund, Ivan I; Brown, Morris M; Busonero, Fabio F; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Y Eugene YE; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Connell, John M JM; Cucca, Francesco F; Cupples, L Adrienne LA; Damrauer, Scott M SM; Davies, Gail G; Deary, Ian J IJ; Dedoussis, George G; Denny, Joshua C JC; Dominiczak, Anna A; Dubé, Marie-Pierre MP; Ebeling, Tapani T; Eiriksdottir, Gudny G; Esko, Tõnu T; Farmaki, Aliki-Eleni AE; Feitosa, Mary F MF; Ferrario, Marco M; Ferrieres, Jean J; Ford, Ian I; Fornage, Myriam M; Franks, Paul W PW; Frayling, Timothy M TM; Frikke-Schmidt, Ruth R; Fritsche, Lars G LG; Frossard, Philippe P; Fuster, Valentin V; Ganesh, Santhi K SK; Gao, Wei W; Garcia, Melissa E ME; Gieger, Christian C; Giulianini, Franco F; Goodarzi, Mark O MO; Grallert, Harald H; Grarup, Niels N; Groop, Leif L; Grove, Megan L ML; Gudnason, Vilmundur V; Hansen, Torben T; Harris, Tamara B TB; Hayward, Caroline C; Hirschhorn, Joel N JN; Holmen, Oddgeir L OL; Huffman, Jennifer J; Huo, Yong Y; Hveem, Kristian K; Jabeen, Sehrish S; Jackson, Anne U AU; Jakobsdottir, Johanna J; Jarvelin, Marjo-Riitta MR; Jensen, Gorm B GB; Jørgensen, Marit E ME; Jukema, J Wouter JW; Justesen, Johanne M JM; Kamstrup, Pia R PR; Kanoni, Stavroula S; Karpe, Fredrik F; Kee, Frank F; Khera, Amit V AV; Klarin, Derek D; Koistinen, Heikki A HA; Kooner, Jaspal S JS; Kooperberg, Charles C; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo T; Langenberg, Claudia C; Langsted, Anne A; Launer, Lenore J LJ; Lauritzen, Torsten T; Liewald, David C M DCM; Lin, Li An LA; Linneberg, Allan A; Loos, Ruth J F RJF; Lu, Yingchang Y; Lu, Xiangfeng X; Mägi, Reedik R; Malarstig, Anders A; Manichaikul, Ani A; Manning, Alisa K AK; Mäntyselkä, Pekka P; Marouli, Eirini E; Masca, Nicholas G D NGD; Maschio, Andrea A; Meigs, James B JB; Melander, Olle O; Metspalu, Andres A; Morris, Andrew P AP; Morrison, Alanna C AC; Mulas, Antonella A; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Neville, Matt J MJ; Nielsen, Jonas B JB; Nielsen, Sune F SF; Nordestgaard, Børge G BG; Ordovas, Jose M JM; Mehran, Roxana R; O'Donnell, Christoper J CJ; Orho-Melander, Marju M; Molony, Cliona M CM; Muntendam, Pieter P; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Pasko, Dorota D; Patel, Aniruddh P AP; Pedersen, Oluf O; Perola, Markus M; Peters, Annette A; Pisinger, Charlotta C; Pistis, Giorgio G; Polasek, Ozren O; Poulter, Neil N; Psaty, Bruce M BM; Rader, Daniel J DJ; Rasheed, Asif A; Rauramaa, Rainer R; Reilly, Dermot F DF; Reiner, Alex P AP; Renström, Frida F; Rich, Stephen S SS; Ridker, Paul M PM; Rioux, John D JD; Robertson, Neil R NR; Roden, Dan M DM; Rotter, Jerome I JI; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Sanna, Serena S; Sattar, Naveed N; Schmidt, Ellen M EM; Scott, Robert A RA; Sever, Peter P; Sevilla, Raquel S RS; Shaffer, Christian M CM; Sim, Xueling X; Sivapalaratnam, Suthesh S; Small, Kerrin S KS; Smith, Albert V AV; Smith, Blair H BH; Somayajula, Sangeetha S; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Starr, John M JM; Stirrups, Kathleen E KE; Stitziel, Nathan N; Strauch, Konstantin K; Stringham, Heather M HM; Surendran, Praveen P; Tada, Hayato H; Tall, Alan R AR; Tang, Hua H; Tardif, Jean-Claude JC; Taylor, Kent D KD; Trompet, Stella S; Tsao, Philip S PS; Tuomilehto, Jaakko J; Tybjaerg-Hansen, Anne A; van Zuydam, Natalie R NR; Varbo, Anette A; Varga, Tibor V TV; Virtamo, Jarmo J; Waldenberger, Melanie M; Wang, Nan N; Wareham, Nick J NJ; Warren, Helen R HR; Weeke, Peter E PE; Weinstock, Joshua J; Wessel, Jennifer J; Wilson, James G JG; Wilson, Peter W F PWF; Xu, Ming M; Yaghootkar, Hanieh H; Young, Robin R; Zeggini, Eleftheria E; Zhang, He H; Zheng, Neil S NS; Zhang, Weihua W; Zhang, Yan Y; Zhou, Wei W; Zhou, Yanhua Y; Zoledziewska, Magdalena M; , ; , ; , ; , ; , ; Howson, Joanna M M JMM; Danesh, John J; McCarthy, Mark I MI; Cowan, Chad A CA; Abecasis, Goncalo G; Deloukas, Panos P; Musunuru, Kiran K; Willer, Cristen J CJ; Kathiresan, Sekar S
Publication Date: 2017-12

Variant appearance in text: VTN: Thr400Met; rs704
PubMed Link: 29083408
Variant Present in the following documents:
  • Main text
  • nihms909134.pdf
View BVdb publication page



Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs704
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: VTN: T400M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: VTN: T400M; rs704
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page