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    Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1–2 duplications based on long-read sequencing

    Dystrophinopathies are the most common X-linked inherited muscle diseases, and the disease-causing gene is DMD. Exonic duplications are a common type of pathogenic variants in the DMD gene, however, 5’ end exonic...

    Jiandong Shen, Taoli Ding, Xue** Sun, Ji Yang, Yue Zhang, **g Wang… in BMC Genomics (2024)

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