Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.I693M
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SCN4A

NM_000334.4:p.I693M

Associated Papers

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.

Zhao C et al.

Plos One, 2020

Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.

Furby A et al.

Neuromuscular Disorders : Nmd, 2014

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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."