Associated Papers
Generation of induced pluripotent stem cell lines from three LGMD R1 patients carrying CAPN3 hypomorphic intronic variant c.1746-20C > G.
Goluba K et al.
Stem Cell Research, 2025
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
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
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Mroczek M et al.
Human Mutation, 2022
Calpainopathy-a survey of mutations and polymorphisms.
Richard I et al.
American Journal of Human Genetics, 1999
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