SpliceVault predicts the precise nature of variant-associated mis-splicing

Even for essential splice-site variants that are almost guaranteed to alter mRNA splicing, no current method can reliably predict whether exon-skipping, cryptic activation or multiple events will result, greatly complicating clinical interpretation of pathogenicity. Strikingly, ranking the four most...

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Detalles Bibliográficos
Autores principales: Dawes, Ruebena, Bournazos, Adam M., Bryen, Samantha J., Bommireddipalli, Shobhana, Marchant, Rhett G., Joshi, Himanshu, Cooper, Sandra T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2023
Materias:
Analysis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9925382/
https://www.ncbi.nlm.nih.gov/pubmed/36747048
http://dx.doi.org/10.1038/s41588-022-01293-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9925382/
https://www.ncbi.nlm.nih.gov/pubmed/36747048
http://dx.doi.org/10.1038/s41588-022-01293-8

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