Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.S682W
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SCN4A

NM_000334.4:p.S682W

Associated Papers

Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.

Brownstein CA et al.

Advanced Genetics (hoboken, N.j.), 2023

Genetic Determinants of Sudden Unexpected Death in Pediatrics.

Koh HY et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

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."