Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.G177A
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SCN1A

NM_001165963.4:p.G177A

Associated Papers

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.

Brunklaus A et al.

Human Mutation, 2020

In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations.

Nissenkorn A et al.

Plos One, 2019

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