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: KCNQ2: 613A>G; Ile205Val
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review.
Frontiers In Neurology
Amore, Greta G; Butera, Ambra A; Spoto, Giulia G; Valentini, Giulia G; Saia, Maria Concetta MC; Salpietro, Vincenzo V; Calì, Francesco F; Di Rosa, Gabriella G; Nicotera, Antonio Gennaro AG
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10
Variant appearance in text: KCNQ2: 613A>G; Ile205Val