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Article

Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2021

da Silva Filho Luiz Vicente Ribeiro Ferreira, Maróstica Paulo José Cauduro, Athanazio Rodrigo Abensur, Reis Francisco José Caldeira, Damaceno Neiva, Paes Angela Tavares, Hira Adilson Yuuji, Schlesinger David, Kok Fernando, Amaral Margarida D

Abstract excerpt

BACKGROUND: The Brazilian population has a tri-hybrid composition with a high degree of ethnic admixture. We hypothesized that Brazilian individuals with CF from different Brazilian regions have a specific distribution of CFTR variants. METHODS: Individuals with CF with data available in the Patient Registry and without an established genotype were submitted to CFTR sequencing by Next Generation Sequencing (NGS)...

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PMID: 32819855
DOI: 10.1016/j.jcf.2020.08.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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