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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN2

Variant:p.R417W

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CAPN2

NM_001748.5:p.R417W

hg38:chr1:223755593 C>T

Associated Papers

Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.

Garnham CP et al.

Biochemistry, 2009

19226146 (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."