Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.F671S
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SCN4A

NM_000334.4:p.F671S

Associated Papers

Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Desaphy JF et al.

Journal of Neuromuscular Diseases, 2021

NMR investigation of the isolated second voltage-sensing domain of human Nav1.4 channel.

Paramonov AS et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.

Wang XY et al.

Molecular Medicine Reports, 2015

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

Dupré N et al.

Neuromuscular Disorders : Nmd, 2009

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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."