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
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
Transcriptional and translational effects of intronic CAPN3 gene mutations.
Nascimbeni AC et al.
Human Mutation, 2010
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
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Piluso G et al.
Journal of Medical Genetics, 2005
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Fanin M et al.
Human Mutation, 2004
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