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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...

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Detalles Bibliográficos
Autores principales: Glidden, David T., Buerer, Jeramiah L., Saueressig, Camillo F., Fairbrother, William G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
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