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Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Crawford, K; Xian, JL; Helbig, KL; Galer, PD; Parthasarathy, S; Lewis-Smith, D; Kaufman, MC; Fitch, E; Ganesan, S; O'Brien, M; Codoni, V; Ellis, CA; Conway, LJ; Taylor, D; Krause, R; Helbig, I

Helbig, I (corresponding author), Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA.; Helbig, I (corresponding author), Childrens Hosp Philadelphia, Epilepsy NeuroGenet Initiat ENGIN, Philadelphia, PA 19104 USA.; Helbig, I (corresponding author), Childrens Hosp Philadelphia, Dept Biomed & Hlth Informat DBHi, Philadelphia, PA 19104 USA.; Helbig, I (corresponding author), Univ Penn, Dept Neurol, Philadelphia, PA 19104 USA.

GENETICS IN MEDICINE, ; ():

Abstract

PURPOSE: Pathogenic variants in SCN2A cause a wide range of neurodevelopmental phenotypes. Reports of genotype-phenotype correlations are often anecdo......

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