Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.H143N
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CAPN3

NM_000070.3:p.H143N

Associated Papers

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Brockington M et al.

Human Molecular Genetics, 2001

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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."