Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.V431insFs
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CAPN3

NM_000070.3:p.V431insFs

Associated Papers

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2

Calpainopathy-a survey of mutations and polymorphisms.

Richard I et al.

American Journal of Human Genetics, 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."