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Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis

This is a descriptive cross-sectional study that aims to determine the distribution of the CFTR causing variant in a group of patients at a cystic fibrosis (CF) center in southern Brazil, as well as to describe causing variants that are treatable with mutation-specific drugs. Ninety-two patients fro...

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Detalles Bibliográficos
Autores principales:	Lima, Eliandra da Silveira, Pezzin, Luíse Sgarabotto, Fensterseifer, Ana Carolina, Pinto, Leonardo Araújo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Genética 2021
Materias:	Human and Medical Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8650020/ https://www.ncbi.nlm.nih.gov/pubmed/34874053 http://dx.doi.org/10.1590/1678-4685-GMB-2020-0275

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