Detection of disease‐causing CFTR variants in state newborn screening programs
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DOI: 10.1002/ppul.26209
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. read more here.
Keywords: state; detection disease; cftr variants; disease causing ... See more keywords
Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes
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DOI: 10.3390/ijms232214205
Abstract: Although cystic fibrosis (CF) is recognized as a monogenic disease, due to variants within the CFTR (Cystic Fibrosis Transmembrane Regulator) gene, an extreme clinical heterogeneity is described among people with CF (pwCF). Apart from the… read more here.
Keywords: cftr variants; modifier factors; modifier genes; fibrosis ... See more keywords