Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; BrĂ¼nger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
Clinical genome sequencing in an unbiased pediatric cohort.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thiffault, Isabelle I; Farrow, Emily E; Zellmer, Lee L; Berrios, Courtney C; Miller, Neil N; Gibson, Margaret M; Caylor, Raymond R; Jenkins, Janda J; Faller, Deb D; Soden, Sarah S; Saunders, Carol C
Publication Date: 2019-02
Variant appearance in text: SCN1A: 4456T>G; F1486V