Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis.

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作者： Stefania,Nappo ^[1] ; Liliana,Mannucci ^[2] ; Giuseppe,Novelli ^[2] ; Federica,Sangiuolo ^[3] ; Maria Rosaria,D'Apice ^[4] ; Annalisa,Botta ^[2]

作者单位： AORN Santobono-Pausilipon Hospital, Naples, Italy. ^[1] Medical Genetics Unit, Policlinico Tor Vergata, Rome, Italy. ^[2] Neuromed IRCCS Institute, Pozzilli, IS, Italy. ^[3] Department of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Rome, Italy. ^[4]

关键词 CFTR cystic fibrosis gnomAD non-Caucasian populations

主题词等位基因(Alleles);囊性纤维化(Cystic Fibrosis);囊性纤维化跨膜传导调节因子(Cystic Fibrosis Transmembrane Conductance Regulator);数据库, 遗传学(Databases, Genetic);人类(Humans);突变(Mutation);预后(Prognosis)

DOI 10.1111/ahg.12396

PMID 32484936

发布时间 2022-12-07

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