Associated Papers
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Waldrop MA et al.
Human Mutation, 2022
Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies.
Xie Z et al.
Annals of Clinical and Translational Neurology, 2020
Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.
Zaum AK et al.
Neuromuscular Disorders : Nmd, 2017
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