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
[Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)].
Perez F et al.
Revue Neurologique, 2010
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.
Garnham CP et al.
Biochemistry, 2009
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
Krahn M et al.
Clinical Genetics, 2007
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Sáenz A et al.
Brain : a Journal of Neurology, 2005
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