Publications:

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: ABCB4: 3136C>T; Arg1046Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.

Hepatology Communications

Nayagam, Jeremy S JS; Foskett, Pierre P; Strautnieks, Sandra S; Agarwal, Kosh K; Miquel, Rosa R; Joshi, Deepak D; Thompson, Richard J RJ

Publication Date: 2022-10

Variant appearance in text: ABCB4: 3136C>T

PubMed Link: 35894240

Variant Present in the following documents:

• Main text
• HEP4-6-2654.pdf

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Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.

Genes

Wang, Helen H HH; Portincasa, Piero P; Liu, Min M; Wang, David Q-H DQ

Publication Date: 2022-06-11

Variant appearance in text: ABCB4: 3136C>T

PubMed Link: 35741809

Variant Present in the following documents:

• Main text
• genes-13-01047.pdf

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