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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN1

Variant:p.I556I

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CLCN1

NM_000083.3:p.I556I

hg38:chr7:143342014 C>T

Associated Papers

A novel mutation in CLCN1 associated with feline myotonia congenita.

Gandolfi B et al.

Plos One, 2014

25356766 (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."