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Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption
Transcripts containing premature termination codons (PTCs) can be subject to nonsense-associated alternative splicing (NAS). Two models have been evoked to explain this, scanning and splice motif disruption. The latter postulates that exonic cis motifs, such as exonic splice enhancers (ESEs), are di...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8464065/ https://www.ncbi.nlm.nih.gov/pubmed/34469537 http://dx.doi.org/10.1093/nar/gkab750 |