Varaico: Literature-Extracted Genetic Variants

Gene:CIC
Variant:p.R777delFs
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CIC

NM_001386298.1:p.R777delFs

Associated Papers

Clinical and genetic characteristics of myotonia congenita in Chinese population.

He Y et al.

Channels (austin, Tex.), 2024

38720415 (PubMed )
Supplement: KCHL_A_2349823_SM7931.docx

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

Li Y et al.

Channels (austin, Tex.), 2022

Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation.

Chang TY et al.

Acta Neurologica Taiwanica, 2007

Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita.

Kuo HC et al.

Acta Neurologica Scandinavica, 2006

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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."