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Detection of disease‐causing CFTR variants in state newborn screening programs

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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… Click to show full abstract

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.

Keywords: state; detection disease; cftr variants; disease causing; newborn screening

Journal Title: Pediatric Pulmonology
Year Published: 2022

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