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RNA-seq analysis, targeted long-read sequencing, and in silico prediction to unravel pathogenic intronic events and predict the regulatory mechanisms underlying complex splicing abnormalities in patients with dystrophinopathy

2022-06-24

Abstract excerpt

<title>Abstract</title> <p>Dystrophinopathy is caused by alterations in <italic>DMD</italic>. Approximately 1% of patients remain genetically undiagnosed because intronic variations are not detected by standard methods. Here, we combined laboratory and <italic>in silico</italic> analyses to identify disease-causing genomic variants in genetically undiagnosed patients and determine the regulatory mechanisms underl...

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Literature Corpus work: 050bad46-5fdc-5513-8cc8-607ff0949305
DOI: 10.21203/rs.3.rs-1772868/v1

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