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: SMN1: 389A>G; Tyr130Cys
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Brain Communications
Wadman, Renske I RI; Jansen, Marc D MD; Stam, Marloes M; Wijngaarde, Camiel A CA; Curial, Chantall A D CAD; Medic, Jelena J; Sodaar, Peter P; Schouten, Jan J; Vijzelaar, Raymon R; Lemmink, Henny H HH; van den Berg, Leonard H LH; Groen, Ewout J N EJN; van der Pol, W Ludo WL
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
Human Genetics
Ruhno, Corey C; McGovern, Vicki L VL; Avenarius, Matthew R MR; Snyder, Pamela J PJ; Prior, Thomas W TW; Nery, Flavia C FC; Muhtaseb, Abdurrahman A; Roggenbuck, Jennifer S JS; Kissel, John T JT; Sansone, Valeria A VA; Siranosian, Jennifer J JJ; Johnstone, Alec J AJ; Nwe, Pann H PH; Zhang, Ren Z RZ; Swoboda, Kathryn J KJ; Burghes, Arthur H M AHM
Publication Date: 2019-03
Variant appearance in text: SMA: 389A>G; rs397514517