Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.E1520K
Back to variants list

SCN4A

NM_000334.4:p.E1520K

Associated Papers

New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.

Nicole S et al.

Frontiers in Pharmacology, 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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."