Publications:

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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: ATP6V0A2: 2293C>T; Gln765Ter

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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Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.

International Journal Of Molecular Sciences

Linders, Peter T A PTA; Peters, Ella E; Ter Beest, Martin M; Lefeber, Dirk J DJ; van den Bogaart, Geert G

Publication Date: 2020-06-30

Variant appearance in text: ATP6V0A2: Q765X

PubMed Link: 32629928

Variant Present in the following documents:

• Main text
• ijms-21-04654.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ATP6V0A2: 2293C>T; Gln765*; rs80356758

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: ATP6V0A2: Q765X; rs80356758

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ATP6V0A2: 2293C>T; Gln765Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA.

Molecular Genetics And Metabolism Reports

Bahena-Bahena, D D; López-Valdez, J J; Raymond, K K; Salinas-Marín, R R; Ortega-García, A A; Ng, B G BG; Freeze, H H HH; Ruíz-García, M M; Martínez-Duncker, I I

Publication Date: 2014

Variant appearance in text: ATP6V0A2: 2293C>T; Q765X

PubMed Link: 27896089

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.

Bmc Genomics

Jang, Hyeon-Min HM; Erf, Gisela F GF; Rowland, Kaylee C KC; Kong, Byung-Whi BW

Publication Date: 2014-08-23

Variant appearance in text: ATP6V0A2: Q765*; rs80356758

PubMed Link: 25151476

Variant Present in the following documents:

• Main text
• 12864_2013_Article_6386.pdf

View BVdb publication page

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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

Human Molecular Genetics

Hucthagowder, Vishwanathan V; Morava, Eva E; Kornak, Uwe U; Lefeber, Dirk J DJ; Fischer, Björn B; Dimopoulou, Aikaterini A; Aldinger, Annika A; Choi, Jiwon J; Davis, Elaine C EC; Abuelo, Dianne N DN; Adamowicz, Maciej M; Al-Aama, Jumana J; Basel-Vanagaite, Lina L; Fernandez, Bridget B; Greally, Marie T MT; Gillessen-Kaesbach, Gabriele G; Kayserili, Hulya H; Lemyre, Emmanuelle E; Tekin, Mustafa M; Türkmen, Seval S; Tuysuz, Beyhan B; Yüksel-Konuk, Berrin B; Mundlos, Stefan S; Van Maldergem, Lionel L; Wevers, Ron A RA; Urban, Zsolt Z

Publication Date: 2009-06-15

Variant appearance in text: ATP6V0A2: 2293C>T; Q765X

PubMed Link: 19321599

Variant Present in the following documents:

• Main text

View BVdb publication page

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