Article

Mutations primarily alter the inclusion of alternatively spliced exons

2020-07-01

Abstract excerpt

Genetic analyses and systematic mutagenesis have revealed that synonymous, non-synonymous and intronic mutations frequently alter the inclusion levels of alternatively spliced exons, consistent with the concept that altered splicing might be a common mechanism by which mutations cause disease. However, most exons expressed in any cell are highly-included in mature mRNAs. Here, by performing deep mutagenesis of hig...

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Literature Corpus work: 27bfe368-2b38-5c0d-adfe-183509250ba5
DOI: 10.1101/2020.06.30.181404

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