Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.E871*
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CLCN1

NM_000083.3:p.E871*

Associated Papers

Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix.

Macías MJ et al.

The Biochemical Journal, 2007

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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."