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Article

Background splicing as a predictor of aberrant splicing in genetic disease.

RNA biology - 1 Jan 2022

Alexieva Diana, Long Yi, Sarkar Rupa, Dhayan Hansraj, Bruet Emmanuel, Winston Robert Maurice, Vorechovsky Igor, Castellano Leoandro, Dibb Nicholas John

Abstract excerpt

Mutations of splice sites, auxiliary splicing elements and the splicing machinery cause a wide range of genetic disease. Here we report that many of the complex effects of splicing mutations can be predicted from background splicing information, with emphasis on BRCA1, BRCA2 and DMD. Background splicing arises from very low level splicing between rarely used background splice sites and from low-level exon...

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Identifiers

PMID: 35188075
DOI: 10.1080/15476286.2021.2024031
PMCID: PMC8865296

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