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: MYH7: 4442T>C; Leu1481Pro
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Human Mutation
Lamont, Phillipa J PJ; Wallefeld, William W; Hilton-Jones, David D; Udd, Bjarne B; Argov, Zohar Z; Barboi, Alexandru C AC; Bonneman, Carsten C; Boycott, Kym M KM; Bushby, Kate K; Connolly, Anne M AM; Davies, Nicholas N; Beggs, Alan H AH; Cox, Gerald F GF; Dastgir, Jahannaz J; DeChene, Elizabeth T ET; Gooding, Rebecca R; Jungbluth, Heinz H; Muelas, Nuria N; Palmio, Johanna J; Penttilä, Sini S; Schmedding, Eric E; Suominen, Tiina T; Straub, Volker V; Staples, Christopher C; Van den Bergh, Peter Y K PY; Vilchez, Juan J JJ; Wagner, Kathryn R KR; Wheeler, Patricia G PG; Wraige, Elizabeth E; Laing, Nigel G NG