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: NF1: 2531T>G; Leu844Arg
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
American Journal Of Medical Genetics. Part A
Fahrner, Jill A JA; Frazier, Aisha A; Bachir, Suha S; Walsh, Michael F MF; Applegate, Carolyn D CD; Thompson, Reid R; Halushka, Marc K MK; Murphy, Anne M AM; Gunay-Aygun, Meral M