Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.W303*
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CLCN1

NM_000083.3:p.W303*

Associated Papers

CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.

Skálová D et al.

Plos One, 2013

A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris.

Zielonka D et al.

Neuromuscular Disorders : Nmd, 2012

Diagnostics in skeletal muscle channelopathies.

Vicino A et al.

Expert Review of Molecular Diagnostics, 0

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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."