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Article

A Low-Cost and Simple Genetic Screening for Cystic Fibrosis Provided by the Brazilian Public Health System.

The Journal of pediatrics - 1 Aug 2018

Rispoli Thaiane, Martins de Castro Simone, Grandi Tarciana, Prado Mayara, Filippon Letícia, Dornelles da Silva Cláudia Maria, Vargas José Eduardo, Rossetti Lucia Maria Rosa

Abstract excerpt

Cystic fibrosis newborn screening was implemented in Brazil by the Public Health System in 2012. Because of cost, only 1 mutation was tested - p.Phe508del. We developed a robust low-cost genetic test for screening 11 CFTR gene mutations with potential use in developing countries.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29731357
DOI: 10.1016/j.jpeds.2018.03.047

Genes

CFTR

Variants

Provenance

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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