Mutations primarily alter the inclusion of alternatively spliced exons

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. Howev...

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Bibliographic Details
Main Authors: Pablo Baeza-Centurion, Belén Miñana, Juan Valcárcel, Ben Lehner
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2020-10-01
Series:eLife
Subjects:
Online Access:https://elifesciences.org/articles/59959