Hotspot exons are common targets of splicing perturbations

Splicing-disrupting mutations are linked to diseases. By employing a machine learning approach, the authors show that certain exons, termed hotspot exons, are enriched for splicing-disruption variants and susceptible to splicing perturbations.

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Detalles Bibliográficos
Autores principales: David T. Glidden, Jeramiah L. Buerer, Camillo F. Saueressig, William G. Fairbrother
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/504d517c7c5c44f5a7cb252a1c59d126
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