Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.Q3Q
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CLCN1

NM_000083.3:p.Q3Q

Associated Papers

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.

Musa NH et al.

Frontiers in Genetics, 2022

36659963 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
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