Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.V1166A
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SCN4A

NM_000334.4:p.V1166A

Associated Papers

Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.

Yuan JH et al.

Journal of Neurology, 2022

An unusual case of sodium channel myotonia with transient weakness upon initiating movements which is characteristic in Becker disease.

Yamamoto J et al.

Rinsho Shinkeigaku = Clinical Neurology, 2017

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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."