Associated Papers
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C et al.
Journal of Translational Medicine, 2025
39833864 (PubMed )
Supplement: 12967_2025_6069_MOESM3_ESM.xlsx › Validation_cases
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.
Torella A et al.
Plos One, 2020
Comprehensive genetic characteristics of dystrophinopathies in China.
Ma P et al.
Orphanet Journal of Rare Diseases, 2018
29973226 (PubMed )
Supplement: 13023_2018_853_MOESM1_ESM.pdf
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Tuffery-Giraud S et al.
Human Mutation, 2009
DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.
Gurvich OL et al.
Human Mutation, 2009
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
Vieitez I et al.
Neurologia (barcelona, Spain), 0
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