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: 3224A>T; Lys1075Met

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Ivacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases.

International Journal Of Molecular Sciences

Delaunay, Jean-Louis JL; Elbahnsi, Ahmad A; Bruneau, Alix A; Madry, Claire C; Durand-Schneider, Anne-Marie AM; Stary, Anne A; Housset, Chantal C; Gautheron, Jérémie J; Callebaut, Isabelle I; Aït-Slimane, Tounsia T

Publication Date: 2023-01-08

Variant appearance in text: ABCB4: K1075M

PubMed Link: 36674751

Variant Present in the following documents:

• Main text
• ijms-24-01236.pdf

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Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile salts.

Biomed Research International

Morita, Shin-ya SY; Terada, Tomohiro T

Publication Date: 2014

Variant appearance in text: ABCB4: K1075M

PubMed Link: 25133187

Variant Present in the following documents:

• Main text
• BMRI2014-954781.pdf

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