Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.E716K
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CAPN3

NM_000070.3:p.E716K

Associated Papers

Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.

Tomforde M et al.

Neurogenetics, 2023

37589857 (PubMed )
Supplement: 10048_2023_728_MOESM2_ESM.xlsx › c.1746-20C_G
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