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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN1

Variant:p.P408T

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CLCN1

NM_000083.3:p.P408T

hg38:chr7:143332474 C>A

Associated Papers

A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.

Sasaki R et al.

Muscle & Nerve, 2001

11353420 (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."