Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.P1629L
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SCN4A

NM_000334.4:p.P1629L

Associated Papers

EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.

Horie R et al.

Muscle & Nerve, 2020

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

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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."