Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.M1T
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CLCN1

NM_000083.3:p.M1T

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

Myotonia congenita: novel mutations in CLCN1 gene.

Liu XL et al.

Channels (austin, Tex.), 2015

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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."