MTX1 c.187A>T ;(p.T63S)

Variant ID: 1-155178782-A-T

NM_002455.3(MTX1):c.187A>T;(p.T63S)

This variant was identified in 39 publications

View GRCh38 version.




Publications:


Dissecting the genetic heterogeneity of gastric cancer.

Ebiomedicine
Hess, Timo T; Maj, Carlo C; Gehlen, Jan J; Borisov, Oleg O; Haas, Stephan L SL; Gockel, Ines I; Vieth, Michael M; Piessen, Guillaume G; Alakus, Hakan H; Vashist, Yogesh Y; Pereira, Carina C; Knapp, Michael M; Schüller, Vitalia V; Quaas, Alexander A; Grabsch, Heike I HI; Trautmann, Jessica J; Malecka-Wojciesko, Ewa E; Mokrowiecka, Anna A; Speller, Jan J; Mayr, Andreas A; Schröder, Julia J; Hillmer, Axel M AM; Heider, Dominik D; Lordick, Florian F; Pérez-Aísa, Ángeles Á; Campo, Rafael R; Espinel, Jesús J; Geijo, Fernando F; Thomson, Concha C; Bujanda, Luis L; Sopeña, Federico F; Lanas, Ángel Á; Pellisé, María M; Pauligk, Claudia C; Goetze, Thorsten Oliver TO; Zelck, Carolin C; Reingruber, Julian J; Hassanin, Emadeldin E; Elbe, Peter P; Alsabeah, Sandra S; Lindblad, Mats M; Nilsson, Magnus M; Kreuser, Nicole N; Thieme, René R; Tavano, Francesca F; Pastorino, Roberta R; Arzani, Dario D; Persiani, Roberto R; Jung, Jin-On JO; Nienhüser, Henrik H; Ott, Katja K; Schumann, Ralf R RR; Kumpf, Oliver O; Burock, Susen S; Arndt, Volker V; Jakubowska, Anna A; Ławniczak, Małgorzta M; Moreno, Victor V; Martín, Vicente V; Kogevinas, Manolis M; Pollán, Marina M; Dąbrowska, Justyna J; Salas, Antonio A; Cussenot, Olivier O; Boland-Auge, Anne A; Daian, Delphine D; Deleuze, Jean-Francois JF; Salvi, Erika E; Teder-Laving, Maris M; Tomasello, Gianluca G; Ratti, Margherita M; Senti, Chiara C; De Re, Valli V; Steffan, Agostino A; Hölscher, Arnulf H AH; Messerle, Katharina K; Bruns, Christiane Josephine CJ; Sīviņš, Armands A; Bogdanova, Inga I; Skieceviciene, Jurgita J; Arstikyte, Justina J; Moehler, Markus M; Lang, Hauke H; Grimminger, Peter P PP; Kruschewski, Martin M; Vassos, Nikolaos N; Schildberg, Claus C; Lingohr, Philipp P; Ridwelski, Karsten K; Lippert, Hans H; Fricker, Nadine N; Krawitz, Peter P; Hoffmann, Per P; Nöthen, Markus M MM; Veits, Lothar L; Izbicki, Jakob R JR; Mostowska, Adrianna A; Martinón-Torres, Federico F; Cusi, Daniele D; Adolfsson, Rolf R; Cancel-Tassin, Geraldine G; Höblinger, Aksana A; Rodermann, Ernst E; Ludwig, Monika M; Keller, Gisela G; Metspalu, Andres A; Brenner, Hermann H; Heller, Joerg J; Neef, Markus M; Schepke, Michael M; Dumoulin, Franz Ludwig FL; Hamann, Lutz L; Cannizzaro, Renato R; Ghidini, Michele M; Plaßmann, Dominik D; Geppert, Michael M; Malfertheiner, Peter P; Gehlen, Olivier O; Skoczylas, Tomasz T; Majewski, Marek M; Lubiński, Jan J; Palmieri, Orazio O; Boccia, Stefania S; Latiano, Anna A; Aragones, Nuria N; Schmidt, Thomas T; Dinis-Ribeiro, Mário M; Medeiros, Rui R; Al-Batran, Salah-Eddin SE; Leja, Mārcis M; Kupcinskas, Juozas J; García-González, María A MA; Venerito, Marino M; Schumacher, Johannes J
Publication Date: 2023-05-18

Variant appearance in text: rs760077
PubMed Link: 37209533
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Evaluation of polygenic risk score for risk prediction of gastric cancer.

World Journal Of Gastrointestinal Oncology
Wang, Xiao-Yu XY; Wang, Li-Li LL; Xu, Lin L; Liang, Shu-Zhen SZ; Yu, Meng-Chao MC; Zhang, Qiu-Yue QY; Dong, Quan-Jiang QJ
Publication Date: 2023-02-15

Variant appearance in text: rs760077
PubMed Link: 36908320
Variant Present in the following documents:
  • WJGO-15-276.pdf
View BVdb publication page



Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.

Iscience
Magallón-Lorenz, Miriam M; Terribas, Ernest E; Ortega-Bertran, Sara S; Creus-Bachiller, Edgar E; Fernández, Marco M; Requena, Gerard G; Rosas, Inma I; Mazuelas, Helena H; Uriarte-Arrazola, Itziar I; Negro, Alex A; Lausová, Tereza T; Castellanos, Elisabeth E; Blanco, Ignacio I; DeVries, George G; Kawashima, Hiroyuki H; Legius, Eric E; Brems, Hilde H; Mautner, Viktor V; Kluwe, Lan L; Ratner, Nancy N; Wallace, Margaret M; Fernández-Rodriguez, Juana J; Lázaro, Conxi C; Fletcher, Jonathan A JA; Reuss, David D; Carrió, Meritxell M; Gel, Bernat B; Serra, Eduard E
Publication Date: 2023-02-17

Variant appearance in text: rs760077
PubMed Link: 36818284
Variant Present in the following documents:
  • mmc2.xlsx, sheet 6
  • mmc2.xlsx, sheet 5
  • mmc2.xlsx, sheet 8
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: rs760077
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
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: rs760077
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Incorporating family disease history and controlling case-control imbalance for population-based genetic association studies.

Bioinformatics (Oxford, England)
Zhuang, Yongwen Y; Wolford, Brooke N BN; Nam, Kisung K; Bi, Wenjian W; Zhou, Wei W; Willer, Cristen J CJ; Mukherjee, Bhramar B; Lee, Seunggeun S
Publication Date: 2022-09-15

Variant appearance in text: rs760077
PubMed Link: 35876838
Variant Present in the following documents:
  • Main text
  • btac459.pdf
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: rs760077
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



TranSNPs: A class of functional SNPs affecting mRNA translation potential revealed by fraction-based allelic imbalance.

Iscience
Valentini, Samuel S; Marchioretti, Caterina C; Bisio, Alessandra A; Rossi, Annalisa A; Zaccara, Sara S; Romanel, Alessandro A; Inga, Alberto A
Publication Date: 2021-12-17

Variant appearance in text: rs760077
PubMed Link: 34917903
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Pleiotropic Effects of Functional MUC1 Variants on Cardiometabolic, Renal, and Hematological Traits in the Taiwanese Population.

International Journal Of Molecular Sciences
Teng, Ming-Sheng MS; Wu, Semon S; Hsu, Lung-An LA; Chou, Hsin-Hua HH; Ko, Yu-Lin YL
Publication Date: 2021-09-30

Variant appearance in text: rs760077
PubMed Link: 34638981
Variant Present in the following documents:
  • Main text
  • ijms-22-10641.pdf
View BVdb publication page



Transcriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations.

Genes
Wen, Jia J; Xie, Munan M; Rowland, Bryce B; Rosen, Jonathan D JD; Sun, Quan Q; Chen, Jiawen J; Tapia, Amanda L AL; Qian, Huijun H; Kowalski, Madeline H MH; Shan, Yue Y; Young, Kristin L KL; Graff, Marielisa M; Argos, Maria M; Avery, Christy L CL; Bien, Stephanie A SA; Buyske, Steve S; Yin, Jie J; Choquet, Hélène H; Fornage, Myriam M; Hodonsky, Chani J CJ; Jorgenson, Eric E; Kooperberg, Charles C; Loos, Ruth J F RJF; Liu, Yongmei Y; Moon, Jee-Young JY; North, Kari E KE; Rich, Stephen S SS; Rotter, Jerome I JI; Smith, Jennifer A JA; Zhao, Wei W; Shang, Lulu L; Wang, Tao T; Zhou, Xiang X; Reiner, Alexander P AP; Raffield, Laura M LM; Li, Yun Y
Publication Date: 2021-07-08

Variant appearance in text: rs760077
PubMed Link: 34356065
Variant Present in the following documents:
  • Main text
  • genes-12-01049.pdf
View BVdb publication page



Causal Inference Between Chronic Periodontitis and Chronic Kidney Disease: A Bidirectional Mendelian Randomization Analysis in a European Population.

Frontiers In Genetics
Yang, Jie J; Chen, Tianyi T; Zhu, Yahong Y; Bai, Mingxia M; Li, Xingang X
Publication Date: 2021

Variant appearance in text: rs760077
PubMed Link: 34163528
Variant Present in the following documents:
  • Main text
  • fgene-12-676136.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: rs760077
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs760077
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.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: rs760077
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: rs760077
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



Gastric Cancer Risk Prediction Using an Epidemiological Risk Assessment Model and Polygenic Risk Score.

Cancers
Park, Boyoung B; Yang, Sarah S; Lee, Jeonghee J; Choi, Il Ju IJ; Kim, Young-Il YI; Kim, Jeongseon J
Publication Date: 2021-02-19

Variant appearance in text: rs760077
PubMed Link: 33669642
Variant Present in the following documents:
  • Main text
  • cancers-13-00876.pdf
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: rs760077
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
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: rs760077
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



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: rs760077
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Olafsson, Sigurgeir S; Alexandersson, Kristjan F KF; Gizurarson, Johann G K JGK; Hauksdottir, Katrin K; Gunnarsson, Orvar O; Olafsson, Karl K; Gudmundsson, Julius J; Stacey, Simon N SN; Sveinbjornsson, Gardar G; Saemundsdottir, Jona J; Bjornsson, Einar S ES; Olafsson, Sigurdur S; Bjornsson, Sigurdur S; Orvar, Kjartan B KB; Vikingsson, Arnor A; Geirsson, Arni J AJ; Arinbjarnarson, Sturla S; Bjornsdottir, Gyda G; Thorgeirsson, Thorgeir E TE; Sigurdsson, Snaevar S; Halldorsson, Gisli H GH; Magnusson, Olafur T OT; Masson, Gisli G; Holm, Hilma H; Jonsdottir, Ingileif I; Sigurdardottir, Olof O; Eyjolfsson, Gudmundur I GI; Olafsson, Isleifur I; Sulem, Patrick P; Thorsteinsdottir, Unnur U; Jonsson, Thorvaldur T; Rafnar, Thorunn T; Gudbjartsson, Daniel F DF; Stefansson, Kari K
Publication Date: 2020-01

Variant appearance in text: rs760077
PubMed Link: 31666285
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs760077
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: rs760077
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs760077
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



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: rs760077
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

Nature Communications
Takeuchi, Fumihiko F; Akiyama, Masato M; Matoba, Nana N; Katsuya, Tomohiro T; Nakatochi, Masahiro M; Tabara, Yasuharu Y; Narita, Akira A; Saw, Woei-Yuh WY; Moon, Sanghoon S; Spracklen, Cassandra N CN; Chai, Jin-Fang JF; Kim, Young-Jin YJ; Zhang, Liang L; Wang, Chaolong C; Li, Huaixing H; Li, Honglan H; Wu, Jer-Yuarn JY; Dorajoo, Rajkumar R; Nierenberg, Jovia L JL; Wang, Ya Xing YX; He, Jing J; Bennett, Derrick A DA; Takahashi, Atsushi A; Momozawa, Yukihide Y; Hirata, Makoto M; Matsuda, Koichi K; Rakugi, Hiromi H; Nakashima, Eitaro E; Isono, Masato M; Shirota, Matsuyuki M; Hozawa, Atsushi A; Ichihara, Sahoko S; Matsubara, Tatsuaki T; Yamamoto, Ken K; Kohara, Katsuhiko K; Igase, Michiya M; Han, Sohee S; Gordon-Larsen, Penny P; Huang, Wei W; Lee, Nanette R NR; Adair, Linda S LS; Hwang, Mi Yeong MY; Lee, Juyoung J; Chee, Miao Li ML; Sabanayagam, Charumathi C; Zhao, Wanting W; Liu, Jianjun J; Reilly, Dermot F DF; Sun, Liang L; Huo, Shaofeng S; Edwards, Todd L TL; Long, Jirong J; Chang, Li-Ching LC; Chen, Chien-Hsiun CH; Yuan, Jian-Min JM; Koh, Woon-Puay WP; Friedlander, Yechiel Y; Kelly, Tanika N TN; Bin Wei, Wen W; Xu, Liang L; Cai, Hui H; Xiang, Yong-Bing YB; Lin, Kuang K; Clarke, Robert R; Walters, Robin G RG; Millwood, Iona Y IY; Li, Liming L; Chambers, John C JC; Kooner, Jaspal S JS; Elliott, Paul P; van der Harst, Pim P; , ; Chen, Zhengming Z; Sasaki, Makoto M; Shu, Xiao-Ou XO; Jonas, Jost B JB; He, Jiang J; Heng, Chew-Kiat CK; Chen, Yuan-Tsong YT; Zheng, Wei W; Lin, Xu X; Teo, Yik-Ying YY; Tai, E-Shyong ES; Cheng, Ching-Yu CY; Wong, Tien Yin TY; Sim, Xueling X; Mohlke, Karen L KL; Yamamoto, Masayuki M; Kim, Bong-Jo BJ; Miki, Tetsuro T; Nabika, Toru T; Yokota, Mitsuhiro M; Kamatani, Yoichiro Y; Kubo, Michiaki M; Kato, Norihiro N
Publication Date: 2018-11-28

Variant appearance in text: rs760077
PubMed Link: 30487518
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_7345.pdf
  • 41467_2018_7345_MOESM1_ESM.pdf
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: rs760077
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
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: rs760077
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genome-Wide Association of Genetic Variation in the PSCA Gene with Gastric Cancer Susceptibility in a Korean Population.

Cancer Research And Treatment
Park, Boyoung B; Yang, Sarah S; Lee, Jeonghee J; Woo, Hae Dong HD; Choi, Il Ju IJ; Kim, Young Woo YW; Ryu, Keun Won KW; Kim, Young-Il YI; Kim, Jeongseon J
Publication Date: 2019-04

Variant appearance in text: rs760077
PubMed Link: 30189721
Variant Present in the following documents:
  • Main text
  • crt-2018-162.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs760077
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs760077
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

Genome Medicine
Nagy, Reka R; Boutin, Thibaud S TS; Marten, Jonathan J; Huffman, Jennifer E JE; Kerr, Shona M SM; Campbell, Archie A; Evenden, Louise L; Gibson, Jude J; Amador, Carmen C; Howard, David M DM; Navarro, Pau P; Morris, Andrew A; Deary, Ian J IJ; Hocking, Lynne J LJ; Padmanabhan, Sandosh S; Smith, Blair H BH; Joshi, Peter P; Wilson, James F JF; Hastie, Nicholas D ND; Wright, Alan F AF; McIntosh, Andrew M AM; Porteous, David J DJ; Haley, Chris S CS; Vitart, Veronique V; Hayward, Caroline C
Publication Date: 2017-03-07

Variant appearance in text: rs760077
PubMed Link: 28270201
Variant Present in the following documents:
  • Main text
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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: rs760077
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
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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: rs760077
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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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: rs760077
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
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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: rs760077
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
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Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: rs760077
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: rs760077
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10

Variant appearance in text: rs760077
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
  • 439_2013_Article_1331.pdf
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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs760077
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
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