Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.R669C
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SCN4A

NM_000334.4:p.R669C

Associated Papers

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

Suetterlin K et al.

Brain : a Journal of Neurology, 2022

Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.

Lee SH et al.

Oncotarget, 2017

28179590 (PubMed )
Supplement: oncotarget-08-6579-s002.xlsx › Table_S2

Scorpion β-toxin interference with NaV channel voltage sensor gives rise to excitatory and depressant modes.

Leipold E et al.

The Journal of General Physiology, 2012

Genetic disorders of neuromuscular ion channels.

Kleopa KA et al.

Muscle & Nerve, 2002

The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.

Struyk AF et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2000

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."