Varaico: Literature-Extracted Genetic Variants

Gene:CIC
Variant:p.R523H
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CIC

NM_001386298.1:p.R523H

Associated Papers

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.

Li Y et al.

Channels (austin, Tex.), 2022

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

Moon IS et al.

Journal of Korean Medical Science, 2009

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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."