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Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing

Understanding pre-mRNA splicing is crucial to accurately diagnosing and treating genetic diseases. However, mutations that alter splicing can exert highly diverse effects. Of all the known types of splicing mutations, perhaps the rarest and most difficult to predict are those that activate pseudoexo...

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Detalles Bibliográficos
Autores principales: Keegan, Niall P., Wilton, Steve D., Fletcher, Sue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8819188/
https://www.ncbi.nlm.nih.gov/pubmed/35140743
http://dx.doi.org/10.3389/fgene.2021.806946