Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.A531E
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CLCN1

NM_000083.3:p.A531E

Associated Papers

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.

Mazón MJ et al.

Neuromuscular Disorders : Nmd, 2012

Moroccan consanguineous family with Becker myotonia and review.

Ratbi I et al.

Annals of Indian Academy of Neurology, 2011

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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."