Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.R1463S
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SCN4A

NM_000334.4:p.R1463S

Associated Papers

Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.

Brenes O et al.

Cells, 2021

The role of sodium channels in sudden unexpected death in pediatrics.

Rochtus AM et al.

Molecular Genetics & Genomic Medicine, 2020

32449611 (PubMed )
Supplement: MGG3-8-e1309-s002.xlsx › S1_Table

Skeletal muscle channelopathy: a new risk for sudden infant death syndrome.

Cannon SC

Lancet (london, England), 2018

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

Männikkö R et al.

Lancet (london, England), 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."