Varaico: Literature-Extracted Genetic Variants

Gene:CIC
Variant:p.P631L
Back to variants list

CIC

NM_001386298.1:p.P631L

Associated Papers

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."