Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.L212F
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CAPN3

NM_000070.3:p.L212F

Associated Papers

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.

Alazami AM et al.

Human Genetics, 2016

A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene.

Matsubara E et al.

European Journal of Neurology, 2007

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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."