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Integrated Genotyping Strategies Uncovering Detailed Haplotype Structures and Characterization of DMD duplications

2025-03-11

Abstract excerpt

<title>Abstract</title> <p>Duchenne and Becker muscular dystrophies (DMD/BMDs) are X-linked genetic disorders caused by mutations in the dystrophin gene (<italic>DMD</italic>), characterized by progressive muscle weakness and degeneration. While <italic>DMD</italic> duplications account for approximately 10% of cases, their clinical impact varies significantly, ranging from severe phenotypes to asymptomatic prese...

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Literature Corpus work
e59fc39a-c53c-5864-9a3f-4818ec293d96
DOI
10.21203/rs.3.rs-6126136/v1
Open publication

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Integrated Genotyping Strategies Uncovering Detailed Haplotype Structures and Characterization of DMD duplicationsDOI 10.21203/rs.3.rs-6126136/v1
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