Article
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Nucleic acids research - 8 May 2024
Holm Lise L, Doktor Thomas K, Flugt Katharina K, Petersen Ulrika S S, Petersen Rikke, Andresen Brage S
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 (ESMs) due to an inherent...
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