Article

Revision of splicing variants in the <i>DMD</i> gene

2024-02-02

Abstract excerpt

<h4>Background</h4> Pathogenic variants in the dystrophin ( DMD ) gene lead to X-linked recessive Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Nucleotide variants that affect splicing are a known cause of hereditary diseases. However, their representation in the public genomic variation databases is limited due to the low accuracy of their interpretation, especially if they are located...

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Literature Corpus work: 80e9192d-8bd1-58b7-a7cb-d5e801545de6
DOI: 10.1101/2024.01.31.578175

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