Article
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis.
Annals of human genetics - 1 Nov 2020
Nappo Stefania, Mannucci Liliana, Novelli Giuseppe, Sangiuolo Federica, D'Apice Maria Rosaria, Botta Annalisa
Abstract excerpt
The complexity in the molecular diagnosis of Cystic Fibrosis (CF) also depends on the variable prevalence/incidence of the disease associated with the wide CFTR allelic heterogeneity among different populations. In fact, CF incidence in Asian and African countries is underestimated and the few patients reported so far have rare or unique CFTR pathogenic variants. To obtain insights into CF variants profile and...
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