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: LDLR: 1754T>C; Ile585Thr
Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series.
Frontiers In Genetics
Marusic, Tatiana T; Sustar, Ursa U; Sadiq, Fouzia F; Kotori, Vjosa V; Mlinaric, Matej M; Kovac, Jernej J; Shafi, Saeed S; Khan, Iqbal I; Cevc, Matija M; Trebusak Podkrajsek, Katarina K; Battelino, Tadej T; Groselj, Urh U