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

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 id...

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Detalles Bibliográficos
Autores principales:	McGarry, Meghan E., Ren, Clement L., Wu, Runyu, Farrell, Philip M., McColley, Susanna A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9870974/ https://www.ncbi.nlm.nih.gov/pubmed/36237137 http://dx.doi.org/10.1002/ppul.26209

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