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
Screening of the CAPN3 gene in patients with possible LGMD2A.
Krahn M et al.
Clinical Genetics, 2006
[Muscular dystrophy and calpain].
Sorimachi H
Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 2001
Molecular analysis of p94 and its application to diagnosis of limb girdle muscular dystrophy type 2A.
Sorimachi H et al.
Methods in Molecular Biology (clifton, N.j.), 2000
Calpainopathy-a survey of mutations and polymorphisms.
Richard I et al.
American Journal of Human Genetics, 1999
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
Ono Y et al.
The Journal of Biological Chemistry, 1998
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
Richard I et al.
Cell, 1995
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