Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.V1149L
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SCN4A

NM_000334.4:p.V1149L

Associated Papers

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.

Yuan JH et al.

Frontiers in Neurology, 2023

Up-regulation of voltage-gated sodium channels by peptides mimicking S4-S5 linkers reveals a variation of the ligand-receptor mechanism.

Malak OA et al.

Scientific Reports, 2020

Phenotypic variability in childhood of skeletal muscle sodium channelopathies.

Yoshinaga H et al.

Pediatric Neurology, 2015

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Loussouarn G et al.

Frontiers in Pharmacology, 2015

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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."