Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.G221S
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CAPN3

NM_000070.3:p.G221S

Associated Papers

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population.

Dorobek M et al.

Genetic Testing and Molecular Biomarkers, 2015

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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."