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
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
Hauerslev S et al.
Bmc Musculoskeletal Disorders, 2012
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
Fanin M et al.
European Journal of Human Genetics : Ejhg, 2009
Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.
Fanin M et al.
Journal of Medical Genetics, 2007
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
Fanin M et al.
Journal of Medical Genetics, 2007
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