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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S8.xls › human_ben_mouse_unk_orthovar_14
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Prenatal diagnosis of congenital myopathies and muscular dystrophies.
Massalska D et al.
Clinical Genetics, 2016
MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B.
Aguennouz M et al.
Cell Biochemistry and Function, 2016
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
Fanin M et al.
European Journal of Human Genetics : Ejhg, 2009
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Piluso G et al.
Journal of Medical Genetics, 2005
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
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Fanin M et al.
Human Mutation, 2004
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