Background splicing as a predictor of aberrant splicing in genetic disease

Mutations of splice sites, auxiliary splicing elements and the splicing machinery cause a wide range of genetic disease. Here we report that many of the complex effects of splicing mutations can be predicted from background splicing information, with emphasis on BRCA1, BRCA2 and DMD. Background spli...

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Detalles Bibliográficos
Autores principales: D, Alexieva, Y, Long, R, Sarkar, H, Dhayan, E, Bruet, Rm, Winston, I, Vorechovsky, L, Castellano, N.J, Dibb
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8865296/
https://www.ncbi.nlm.nih.gov/pubmed/35188075
http://dx.doi.org/10.1080/15476286.2021.2024031

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