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: COL4A5: 2625del; Pro876fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Aortic abnormalities in males with Alport syndrome.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Kashtan, Clifford E CE; Segal, Yoav Y; Flinter, Frances F; Makanjuola, David D; Gan, Jay-Sen JS; Watnick, Terry T

Publication Date: 2010-11

Variant appearance in text: COL4A5: 2625delA; Pro876fs

PubMed Link: 20494893

Variant Present in the following documents:

• Main text

View BVdb publication page