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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Auteurs principaux: | David T. Glidden, Jeramiah L. Buerer, Camillo F. Saueressig, William G. Fairbrother |
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Format: | article |
Langue: | EN |
Publié: |
Nature Portfolio
2021
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Accès en ligne: | https://doaj.org/article/504d517c7c5c44f5a7cb252a1c59d126 |
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