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Article

Detection of disease-causing CFTR variants in state newborn screening programs.

Pediatric pulmonology - 1 Feb 2023

McGarry Meghan E, Ren Clement L, Wu Runyu, Farrell Philip M, McColley Susanna A

Abstract excerpt

BACKGROUND: Newborn screening (NBS) algorithms for cystic fibrosis (CF) vary in the United State of America and include different cystic fibrosis transmembrane conductance regulator (CFTR) variants. CFTR variant distribution varies among racial and ethnic groups. OBJECTIVE: Our objectives were to identify differences in detection rate by race and ethnicity for CFTR variant panels, identify each US state detection...

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Identifiers

PMID: 36237137
DOI: 10.1002/ppul.26209
PMCID: PMC9870974

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