Associated Papers
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
Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
Yun U et al.
Plos One, 2021
Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
Okubo M et al.
Journal of Human Genetics, 2017
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
Okubo M et al.
Orphanet Journal of Rare Diseases, 2017
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
Okubo M et al.
Journal of Human Genetics, 2016
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.
Kekou K et al.
Expert Review of Molecular Diagnostics, 0
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