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Pre-mRNA splicing-associated diseases and therapies

1 Aug 2023

Abstract excerpt

Precursor mRNA (pre-mRNA) splicing is an essential step in human gene expression and is carried out by a large macromolecular machine called the spliceosome. Given the spliceosome's role in shaping the cellular transcriptome, it is not surprising that mutations in the splicing machinery can result in a range of human diseases and disorders (spliceosomopathies). This review serves as an introduction into the main...

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PMID: 37528617
DOI: 10.1080/15476286.2023.2239601

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