Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.
Zimowski JG et al.
Journal of Applied Genetics, 2021
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.
Wang L et al.
Frontiers in Genetics, 2019
30833962 (PubMed )
Supplement: Table_1.xlsx › Supplementary_table
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
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