Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.R147P
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CAPN3

NM_000070.3:p.R147P

Associated Papers

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

Shin JH et al.

Journal of Korean Medical Science, 2007

Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.

Keira Y et al.

Neuroscience Research, 2007

Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.

Minami N et al.

Journal of the Neurological Sciences, 1999

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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."