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The cryptic complex rearrangements involving the DMD gene causing completely opposite manifestations: etiologic clues revealed by optical genome mapping

2024-06-12

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<title>Abstract</title> <p><bold>Background: </bold>Deletion or duplication of <italic>DMD </italic>is one of the most common causes of Duchenne and Becker muscular dystrophy (DMD/BMD). However, the pathogenicity of complex rearrangements involving <italic>DMD</italic>, especially segmental duplications with unknown breakpoints, is not well understood. This study aimed to evaluate the structure, pattern, and pote...

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Literature Corpus work
3b41c6b1-dd73-5dd6-899f-2e9696adf815
DOI
10.21203/rs.3.rs-4496303/v1
Open publication

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The cryptic complex rearrangements involving the DMD gene causing completely opposite manifestations: etiologic clues revealed by optical genome mappingDOI 10.21203/rs.3.rs-4496303/v1
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