Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies

Elucidating the functional consequence of molecular defects underlying genetic diseases enables appropriate design of therapeutic options. Treatment of cystic fibrosis (CF) is an exemplar of this paradigm as the development of CFTR modulator therapies has allowed for targeted and effective treatment...

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Detalles Bibliográficos
Autores principales: Joynt, Anya T., Evans, Taylor A., Pellicore, Matthew J., Davis-Marcisak, Emily F., Aksit, Melis A., Eastman, Alice C., Patel, Shivani U., Paul, Kathleen C., Osorio, Derek L., Bowling, Alyssa D., Cotton, Calvin U., Raraigh, Karen S., West, Natalie E., Merlo, Christian A., Cutting, Garry R., Sharma, Neeraj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7605713/
https://www.ncbi.nlm.nih.gov/pubmed/33085659
http://dx.doi.org/10.1371/journal.pgen.1009100

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