Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
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
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.
Dionnet E et al.
Human Mutation, 2020
FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.
Jaka O et al.
Expert Reviews in Molecular Medicine, 2017
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I et al.
Bmc Musculoskeletal Disorders, 2016
27142102 (PubMed )
Supplement: 12891_2016_1058_MOESM1_ESM.docx
Screening of the CAPN3 gene in patients with possible LGMD2A.
Krahn M et al.
Clinical Genetics, 2006
Clinical variability in calpainopathy: what makes the difference?
de Paula F et al.
European Journal of Human Genetics : Ejhg, 2002
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