Article

All exons are not created equal - Exon vulnerability determines the effect of exonic mutations on splicing

2023-06-14

Abstract excerpt

It is now widely accepted that aberrant splicing of constitutive exons is often caused by mutations affecting cis- acting splicing regulatory elements (SREs), but there is a misconception that all exons have an equal dependency on SREs and thus a similar vulnerability to aberrant splicing. We demonstrate that some exons are more likely to be affected by exonic splicing mutations (ESM) due to an inherent vulnerabi...

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Identifiers and source

Literature Corpus work: 48e59b9f-891d-5e09-94f8-b5731bc1829e
DOI: 10.1101/2023.06.14.544306

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