Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.G188C
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CLCN1

NM_000083.3:p.G188C

Associated Papers

Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.

Shalata A et al.

Muscle & Nerve, 2010

Residues lining the inner pore vestibule of human muscle chloride channels.

Fahlke C et al.

The Journal of Biological Chemistry, 2001

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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."