Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.M1476T
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SCN4A

NM_000334.4:p.M1476T

Associated Papers

Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.

Yang X et al.

Channels (austin, Tex.), 2017

[Paramyotonia congenita caused by a novel mutation of SCN4A gene in a Chinese family].

Li W et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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."