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: VWF: 3854C>T; Ser1285Phe
Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease.
Journal Of Molecular Biology
Tischer, Alexander A; Brehm, Maria A MA; Machha, Venkata R VR; Moon-Tasson, Laurie L; Benson, Linda M LM; Nelton, Katelynn J KJ; Leger, Rachel R RR; Obser, Tobias T; Martinez-Vargas, Marina M; Whitten, Steven T ST; Chen, Dong D; Pruthi, Rajiv K RK; Bergen, H Robert HR; Cruz, Miguel A MA; Schneppenheim, Reinhard R; Auton, Matthew M