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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN2

Variant:p.L21_M22Splc

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CLCN2

NM_004366.6:p.L21_M22Splc

hg38:chr3:184361414 T>A

Associated Papers

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.

Sun C et al.

European Journal of Human Genetics : Ejhg, 2001

11840191 (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."