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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...
Autores principales: | Keegan, Niall P., Wilton, Steve D., Fletcher, Sue |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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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 |
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