Autor: Nada El Makhzen
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CFTR gene variant detection in moroccan individuals via nanopore long-read sequencing
IntroductionCystic fibrosis (CF) is an autosomal recessive disease resulting from pathogenic CF transmembrane conductance regulator (CFTR) pathogenic gene variants. While CF’s frequency varies among ethnicities, its epidemiology, clinical manifestation…
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The burden of cystic fibrosis in North Africa
Background: Over 200 pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with cystic fibrosis (CF)—the most prevalent autosomal recessive disease globally, the p.Phe508del variant being the most com…