Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.Q43L
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CLCN1

NM_000083.3:p.Q43L

Associated Papers

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families.

de Diego C et al.

Journal of Neurology, 1999

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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."