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Screening by high‐throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies
This short report documented cystic fibrosis transmembrane conductance regulator (CFTR) variants in 37 patients with cystic fibrosis (CF) in the Rio Grande do Norte region of Northeast Brazil. The high‐throughput sequencing technology (HTS) genetic testing provided a definitive molecular diagnosis i...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9716207/ https://www.ncbi.nlm.nih.gov/pubmed/36369753 http://dx.doi.org/10.1111/jcmm.17605 |