Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.R1451H
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SCN4A

NM_000334.4:p.R1451H

Associated Papers

Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia.

Periviita V et al.

European Journal of Neurology, 2025

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.

Yuan JH et al.

Frontiers in Neurology, 2023

Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.

Yuan JH et al.

Journal of Neurology, 2022

Memory T cells targeting oncogenic mutations detected in peripheral blood of epithelial cancer patients.

Cafri G et al.

Nature Communications, 2019

30683863 (PubMed )
Supplement: 41467_2019_8304_MOESM3_ESM.xlsx › Sheet1

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.

Luo S et al.

Scientific Reports, 2018

The Dystrophic and Nondystrophic Myotonias.

Sansone VA

Continuum (minneapolis, Minn.), 2016

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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."