Publications:

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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: LTA: T60N

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Prognostic significance of the genetic variant of lymphotoxin alpha (p.Thr60Asn) in egyptian patients with advanced hepatocellular carcinoma.

Molecular Biology Reports

Alhelf, Maha M; Shoaib, Rasha M S RMS; Elsaid, Afaf A; Bastawy, Nermeen N; Elbeltagy, Nanis S NS; Salem, Eman T ET; Refaat, Sherif S; Abuelnadar, Eman H EH

Publication Date: 2023-03-16

Variant appearance in text: LTA: Thr60Asn; rs1041981

PubMed Link: 36929286

Variant Present in the following documents:

• Main text
• 11033_2023_Article_8281.pdf

View BVdb publication page

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Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis.

Nature Communications

Han, Younghun Y; Byun, Jinyoung J; Zhu, Catherine C; Sun, Ryan R; Roh, Julia Y JY; Cordell, Heather J HJ; Lee, Hyun-Sung HS; Shaw, Vikram R VR; Kang, Sung Wook SW; Razjouyan, Javad J; Cooley, Matthew A MA; Hassan, Manal M MM; Siminovitch, Katherine A KA; Folseraas, Trine T; Ellinghaus, David D; Bergquist, Annika A; Rushbrook, Simon M SM; Franke, Andre A; Karlsen, Tom H TH; Lazaridis, Konstantinos N KN; , ; McGlynn, Katherine A KA; Roberts, Lewis R LR; Amos, Christopher I CI

Publication Date: 2023-02-24

Variant appearance in text: LTA: T60N; rs1041981

PubMed Link: 36828809

Variant Present in the following documents:

• 41467_2023_36678_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LTA: 179C>A; Thr60Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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HSP70 and TNF Loci Polymorphism Associated with the Posner-Schlossman Syndrome in a Southern Chinese Population.

Journal Of Immunology Research

Bai, Wei W; Huang, Xiaosheng X; Shen, Xiaoli X; Ye, Ye Y; Peng, Shiming S; Zhu, Tianhui T; Mei, Shaoyi S; Kuang, Jiajie J; Yu, Sejie S; Ma, Xiaochen X; Zhao, Jun J

Publication Date: 2022

Variant appearance in text: rs1041981

PubMed Link: 36530572

Variant Present in the following documents:

• JIR2022-5242948.pdf

View BVdb publication page

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Exome variants associated with asthma and allergy.

Scientific Reports

Wjst, Matthias M

Publication Date: 2022-12-05

Variant appearance in text: LTA: 179C>A

PubMed Link: 36470944

Variant Present in the following documents:

• 41598_2022_24960_MOESM1_ESM.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: LTA: T60N; rs1041981

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: LTA: T60N

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association

Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J

Publication Date: 2022-10-04

Variant appearance in text: rs1041981

PubMed Link: 36193932

Variant Present in the following documents:

• JAH3-11-e025245.pdf

View BVdb publication page

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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: LTA: T60N

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

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Pharmacogenomics of Monoclonal Antibodies for the Treatment of Rheumatoid Arthritis.

Journal Of Personalized Medicine

Lim, Sung Ho SH; Kim, Khangyoo K; Choi, Chang-Ik CI

Publication Date: 2022-07-31

Variant appearance in text: rs1041981

PubMed Link: 36013214

Variant Present in the following documents:

• Main text
• jpm-12-01265.pdf

View BVdb publication page

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A comprehensive meta-analysis and prioritization study to identify vitiligo associated coding and non-coding SNV candidates using web-based bioinformatics tools.

Scientific Reports

Dutta, Tithi T; Mitra, Sayantan S; Saha, Arpan A; Ganguly, Kausik K; Pyne, Tushar T; Sengupta, Mainak M

Publication Date: 2022-08-25

Variant appearance in text: rs1041981

PubMed Link: 36008553

Variant Present in the following documents:

• 41598_2022_18766_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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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: LTA: T60N; rs1041981

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Type 2 Diabetes-Related Variants Influence the Risk of Developing Prostate Cancer: A Population-Based Case-Control Study and Meta-Analysis.

Cancers

Sánchez-Maldonado, José Manuel JM; Collado, Ricardo R; Cabrera-Serrano, Antonio José AJ; Ter Horst, Rob R; Gálvez-Montosa, Fernando F; Robles-Fernández, Inmaculada I; Arenas-Rodríguez, Verónica V; Cano-Gutiérrez, Blanca B; Bakker, Olivier O; Bravo-Fernández, María Inmaculada MI; García-Verdejo, Francisco José FJ; López, José Antonio López JAL; Olivares-Ruiz, Jesús J; López-Nevot, Miguel Ángel MÁ; Fernández-Puerta, Laura L; Cózar-Olmo, José Manuel JM; Li, Yang Y; Netea, Mihai G MG; Jurado, Manuel M; Lorente, Jose Antonio JA; Sánchez-Rovira, Pedro P; Álvarez-Cubero, María Jesús MJ; Sainz, Juan J

Publication Date: 2022-05-12

Variant appearance in text: LTA: T60N; rs1041981

PubMed Link: 35625981

Variant Present in the following documents:

• cancers-14-02376.pdf

View BVdb publication page

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Risk prediction of CMV reactivation after allogeneic stem cell transplantation using five non-HLA immunogenetic polymorphisms.

Annals Of Hematology

Vallejo, Miren M; Muñiz, Paula P; Kwon, Mi M; Solán, Laura L; Bailén, Rebeca R; Carbonell, Diego D; Chicano, María M; Suárez-González, Julia J; Catalán, Pilar P; Bellón, José María JM; Triviño, Juan Carlos JC; Dorado, Nieves N; Gallardo, David D; Díez-Martín, José Luis JL; Ramírez, Natalia N; Martínez-Laperche, Carolina C; Buño, Ismael I

Publication Date: 2022-07

Variant appearance in text: rs1041981

PubMed Link: 35525883

Variant Present in the following documents:

• Main text
• 277_2022_Article_4841.pdf

View BVdb publication page

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The role of inflammatory system genes in individual differences in nonverbal intelligence.

Vavilovskii Zhurnal Genetiki I Selektsii

Enikeeva, R F RF; Kazantseva, A V AV; Davydova, Yu D YD; Mustafin, R N RN; Takhirova, Z R ZR; Malykh, S B SB; Kovas, Y V YV; Khusnutdinova, E K EK

Publication Date: 2022-03

Variant appearance in text: LTA: 179C>A; Thr60Asn; rs1041981

PubMed Link: 35434491

Variant Present in the following documents:

• Main text
• VJGB-26-2222.pdf

View BVdb publication page

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Novel molecular biomarkers of cancer therapy-induced cardiotoxicity in adult population: a scoping review.

Esc Heart Failure

Cartas-Espinel, Irene I; Telechea-Fernández, Marcelino M; Manterola Delgado, Carlos C; Ávila Barrera, Andrés A; Saavedra Cuevas, Nicolás N; Riffo-Campos, Angela L AL

Publication Date: 2022-06

Variant appearance in text: rs1041981

PubMed Link: 35261178

Variant Present in the following documents:

• EHF2-9-1651-s001.xls, sheet 7

View BVdb publication page

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Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases

Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E

Publication Date: 2021-12-08

Variant appearance in text: LTA: T60N; rs1041981

PubMed Link: 34879060

Variant Present in the following documents:

• pntd.0010029.s004.xlsx, sheet 1

View BVdb publication page

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Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases

Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E

Publication Date: 2021-12

Variant appearance in text: LTA: T60N; rs1041981

PubMed Link: 34879060

Variant Present in the following documents:

• pntd.0010029.s004.xlsx, sheet 1

View BVdb publication page

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Behavior Genetics Association 51st Annual Meeting Abstracts.

Behavior Genetics

Publication Date: 2021-10-15

Variant appearance in text: rs1041981

PubMed Link: 34654981

Variant Present in the following documents:

• 10519_2021_Article_10087.pdf

View BVdb publication page

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Clinical Significance of TNFRSF1A36T/C Polymorphism in Cachectic Patients with Chronic Heart Failure.

Journal Of Clinical Medicine

Sobieszek, Grzegorz G; Powrózek, Tomasz T; Skwarek-Dziekanowska, Aneta A; Małecka-Massalska, Teresa T

Publication Date: 2021-03-05

Variant appearance in text: rs1041981

PubMed Link: 33807923

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: LTA: Thr60Asn; rs1041981

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Variants in CDHR3, CACNAC1, and LTA Genes Predisposing Sensitivity and Response to Warfarin in Patients with Cardiovascular Disease.

International Journal Of General Medicine

Alghamdi, Mansour A MA; Al-Eitan, Laith L; Alkhatib, Rami R; Al-Assi, Ahmad A; Almasri, Ayah A; Aljamal, Hanan H; Aman, Hatem H; Khasawneh, Rame R

Publication Date: 2021

Variant appearance in text: rs1041981

PubMed Link: 33790638

Variant Present in the following documents:

• Main text
• ijgm-14-1093.pdf

View BVdb publication page

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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: LTA: 179C>A; T60N; rs1041981

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

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Immunogenomic Identification for Predicting the Prognosis of Cervical Cancer Patients.

International Journal Of Molecular Sciences

Wang, Qun Q; Vattai, Aurelia A; Vilsmaier, Theresa T; Kaltofen, Till T; Steger, Alexander A; Mayr, Doris D; Mahner, Sven S; Jeschke, Udo U; Hildegard Heidegger, Helene H

Publication Date: 2021-02-28

Variant appearance in text: rs1041981

PubMed Link: 33671013

Variant Present in the following documents:

• Main text
• ijms-22-02442.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: LTA: 179C>A; Thr60Asn; rs1041981

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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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: LTA: 179C>A; T60N; rs1041981

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
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Tertiary lymphoid organs are associated with the progression of kidney damage and regulated by interleukin-17A.

Theranostics

Luo, Ran R; Cheng, Yichun Y; Chang, Dan D; Liu, Tingting T; Liu, Liu L; Pei, Guangchang G; Zhang, Nanhui N; Wang, Zufeng Z; Guo, Kanglin K; Chen, Wei W; Li, Ming M; Fan, Li L; Zhang, Chunxiu C; Li, Yueqiang Y; Dai, Wei W; Zuo, Meiying M; Xu, Yulin Y; Yao, Ying Y; Ge, Shuwang S; Xu, Gang G

Publication Date: 2021

Variant appearance in text: rs1041981

PubMed Link: 33391465

Variant Present in the following documents:

• Main text
• thnov11p0117.pdf

View BVdb publication page

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Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis.

Cns Neuroscience & Therapeutics

Torre-Fuentes, Laura L; Matías-Guiu, Jordi A JA; Pytel, Vanesa V; Montero-Escribano, Paloma P; Maietta, Paolo P; Álvarez, Sara S; Gómez-Pinedo, Ulises U; Matías-Guiu, Jorge J

Publication Date: 2020-11

Variant appearance in text: LTA: 179C>A; rs1041981

PubMed Link: 32951330

Variant Present in the following documents:

• Main text
• CNS-26-1178-s002.xlsx, sheet 1
• CNS-26-1178.pdf

View BVdb publication page

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The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics

Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z

Publication Date: 2020-10

Variant appearance in text: LTA: 179C>A; Thr60Asn

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

View BVdb publication page

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The effect of LTA gene polymorphisms on cancer risk: an updated systematic review and meta- analysis.

Bioscience Reports

Li, Jingdong J; Wang, Yaxuan Y; Chang, Xueliang X; Han, Zhenwei Z

Publication Date: 2020-05-29

Variant appearance in text: rs1041981

PubMed Link: 32420584

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mannose-binding lectin 2 gene polymorphisms and their association with tuberculosis in a Chinese population.

Infectious Diseases Of Poverty

Zhang, Jun-Xian JX; Gong, Wen-Ping WP; Zhu, Dong-Lin DL; An, Hui-Ru HR; Yang, You-Rong YR; Liang, Yan Y; Wang, Jie J; Tang, Jing J; Zhao, Wei-Guo WG; Wu, Xue-Qiong XQ

Publication Date: 2020-04-29

Variant appearance in text: LTA: T60N; rs1041981

PubMed Link: 32349793

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics and Epigenetics of Atopic Dermatitis: An Updated Systematic Review.

Genes

Martin, Maria J MJ; Estravís, Miguel M; García-Sánchez, Asunción A; Dávila, Ignacio I; Isidoro-García, María M; Sanz, Catalina C

Publication Date: 2020-04-18

Variant appearance in text: rs1041981

PubMed Link: 32325630

Variant Present in the following documents:

• Main text
• genes-11-00442.pdf

View BVdb publication page

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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: rs1041981

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Meta-analysis and field synopsis of genetic variants associated with the risk and severity of acute pancreatitis.

Bjs Open

van den Berg, F F FF; Kempeneers, M A MA; van Santvoort, H C HC; Zwinderman, A H AH; Issa, Y Y; Boermeester, M A MA

Publication Date: 2020-02

Variant appearance in text: rs1041981

PubMed Link: 32011822

Variant Present in the following documents:

• BJS5-4-3-s002.xlsx, sheet 2

View BVdb publication page

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TNF-Block Genotypes Influence Susceptibility to HIV-Associated Sensory Neuropathy in Indonesians and South Africans.

International Journal Of Molecular Sciences

Gaff, Jessica J; Octaviana, Fitri F; Pillay, Prinisha P; Mbenda, Huguette Gaelle Ngassa HGN; Ariyanto, Ibnu A IA; Gan, June Anne JA; Cherry, Catherine L CL; Kamerman, Peter P; Laws, Simon M SM; Price, Patricia P

Publication Date: 2020-01-07

Variant appearance in text: rs1041981

PubMed Link: 31936167

Variant Present in the following documents:

• Main text
• ijms-21-00380.pdf

View BVdb publication page

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Genetic Associations with Aging Muscle: A Systematic Review.

Cells

Pratt, Jedd J; Boreham, Colin C; Ennis, Sean S; Ryan, Anthony W AW; De Vito, Giuseppe G

Publication Date: 2019-12-19

Variant appearance in text: rs1041981

PubMed Link: 31861518

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple selective sweeps of ancient polymorphisms in and around LTα located in the MHC class III region on chromosome 6.

Bmc Evolutionary Biology

Campbell, Michael C MC; Ashong, Bryan B; Teng, Shaolei S; Harvey, Jayla J; Cross, Christopher N CN

Publication Date: 2019-12-02

Variant appearance in text: rs1041981

PubMed Link: 31791241

Variant Present in the following documents:

• Main text
• 12862_2019_Article_1516.pdf

View BVdb publication page

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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: LTA: T60N; rs1041981

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: LTA: 179C>A; T60N; rs1041981

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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The Host-Microbe Interplay in Human Papillomavirus-Induced Carcinogenesis.

Microorganisms

Wakabayashi, Rei R; Nakahama, Yusuke Y; Nguyen, Viet V; Espinoza, J Luis JL

Publication Date: 2019-07-13

Variant appearance in text: rs1041981

PubMed Link: 31337018

Variant Present in the following documents:

• microorganisms-07-00199-s001.pdf

View BVdb publication page

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Genetic and Epigenetic Studies in Diabetic Kidney Disease.

Frontiers In Genetics

Gu, Harvest F HF

Publication Date: 2019

Variant appearance in text: LTA: Thr60Asn

PubMed Link: 31231424

Variant Present in the following documents:

• Main text
• fgene-10-00507.pdf

View BVdb publication page

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Genetic Studies of Inflammatory Bowel Disease-Focusing on Asian Patients.

Cells

Park, Sung Chul SC; Jeen, Yoon Tae YT

Publication Date: 2019-05-01

Variant appearance in text: LTA: Thr60Asn

PubMed Link: 31052430

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: LTA: T60N

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

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Modeling Gene-Environment Interaction for the Risk of Non-hodgkin Lymphoma.

Frontiers In Oncology

Zhang, Jiahui J; Ye, Xibiao X; Wu, Cuie C; Fu, Hua H; Xu, Wei W; Hu, Pingzhao P

Publication Date: 2018

Variant appearance in text: rs1041981

PubMed Link: 30693270

Variant Present in the following documents:

• Main text
• fonc-08-00657.pdf

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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: LTA: T60N; rs1041981

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

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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: LTA: T60N; rs1041981

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs1041981

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

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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: LTA: 179C>A; Thr60Asn; rs1041981

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

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