Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.G1292D
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SCN4A

NM_000334.4:p.G1292D

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

A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.

Benhammou JN et al.

Journal of Molecular Neuroscience : Mn, 2017

A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis.

Kokunai Y et al.

Neuroscience Letters, 2012

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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."