Associated Papers
Biallelic variants in YRDC cause a developmental disorder with progeroid features.
Schmidt J et al.
Human Genetics, 2021
34545459 (PubMed )
Supplement: 439_2021_2347_MOESM6_ESM.xlsx › Tabelle1
Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.
Ling C et al.
Human Mutation, 2020
31705731 (PubMed )
Supplement: HUMU-41-668-s002.xlsx › Sheet1
DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.
Zhou J et al.
Bmc Bioinformatics, 2017
Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.
Almomani R et al.
Neuromuscular Disorders : Nmd, 2009
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