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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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Détails bibliographiques
Publié dans:eLife
Auteurs principaux: Baeza-Centurion, Pablo, Miñana, Belén, Valcárcel, Juan, Lehner, Ben
Format: Artigo
Langue:Inglês
Publié: eLife Sciences Publications, Ltd 2020
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7673789/
https://ncbi.nlm.nih.gov/pubmed/33112234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.59959
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