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Hotspot exons are common targets of splicing perturbations
High-throughput splicing assays have demonstrated that many exonic variants can disrupt splicing; however, splice-disrupting variants distribute non-uniformly across genes. We propose the existence of exons that are particularly susceptible to splice-disrupting variants, which we refer to as hotspot...
Autores principales: | Glidden, David T., Buerer, Jeramiah L., Saueressig, Camillo F., Fairbrother, William G. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8115636/ https://www.ncbi.nlm.nih.gov/pubmed/33980843 http://dx.doi.org/10.1038/s41467-021-22780-2 |
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