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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN6

Variant:p.F413C

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CLCN6

NM_001286.5:p.F413C

hg38:chr1:11829312 T>G

Associated Papers

Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita.

Jeng CJ et al.

Frontiers in Neurology, 2020

32117034 (PubMed )

Phenotypic variability in myotonia congenita.

Colding-Jørgensen E

Muscle & Nerve, 2005

15786415 (PubMed )

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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."