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Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing

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Authors: Qiliang Ding, Jagadheshwar Balan, Noemi Vidal-Folch, Angela M. Pickart, Guangchao Sun, Jesse R. Walsh, Ramanath Majumdar, Eric W. Klee, Stephen J. Murphy, Devin Oglesbee, Ross A. Rowsey, Linda Hasadsri
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  • Published on: April 14 2025
  • Source: medRxiv

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