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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN2

Variant:p.S620C

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CLCN2

NM_004366.6:p.S620C

hg38:chr3:184353419 G>C

Associated Papers

A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A.

Shirakawa T et al.

Neurology, 2002

12370472 (PubMed )

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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."