Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools

Cystic fibrosis (CF) is caused by ~300 pathogenic CFTR variants. The heterogeneity of which, challenges molecular diagnosis and precision medicine approaches in CF. Our objective was to identify CFTR variants through high-throughput sequencing (HTS) and to predict the pathogenicity of novel variants...

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Detalles Bibliográficos
Autores principales: Pereira, Stéphanie Villa-Nova, Ribeiro, José Dirceu, Ribeiro, Antônio Fernando, Bertuzzo, Carmen Sílvia, Marson, Fernando Augusto Lima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6470152/
https://www.ncbi.nlm.nih.gov/pubmed/30996306
http://dx.doi.org/10.1038/s41598-019-42404-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6470152/
https://www.ncbi.nlm.nih.gov/pubmed/30996306
http://dx.doi.org/10.1038/s41598-019-42404-6

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