Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.Q479_K484delFs
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SCN4A

NM_000334.4:p.Q479_K484delFs

Associated Papers

Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy.

Kodal LS et al.

European Journal of Neurology, 2025

[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].

Ivanova EA et al.

Genetika, 2012

Diagnostics in skeletal muscle channelopathies.

Vicino A et al.

Expert Review of Molecular Diagnostics, 0

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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."