Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.S105C
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AICDA

NM_020661.4:p.S105C

Associated Papers

Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita.

Brugnoni R et al.

Human Mutation, 1999

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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."