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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

2023-10-12

Abstract excerpt

Backgroud Dystrophinopathies are the most common X-linked inherited muscle diseases, and the disease-causing gene is DMD . Exonic duplications are common type of pathogenic variants in DMD gene, however, 5’ end exonic duplications containing exon 1 are less common. When assessing the pathogenicity of exonic duplications in the DMD gene, consideration must be given to their impact on the reading frame. Traditional...

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Literature Corpus work
cb45b18a-2009-54c4-99e8-0a48f8733321
DOI
10.21203/rs.3.rs-3367674/v1
Open publication

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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 sequencingDOI 10.21203/rs.3.rs-3367674/v1
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