Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.E624fs
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SCN4A

NM_000334.4:p.E624fs

Associated Papers

A quantitative measure of handgrip myotonia in non-dystrophic myotonia.

Statland JM et al.

Muscle & Nerve, 2012

Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.

Tan SV et al.

Annals of Neurology, 2011

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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."