Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.

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第一作者： Aziz Suat,Gunsel

第一单位： Department of Cardiology, Faculty of Medicine, Near East University, Nicosia 99138, Cyprus.

作者： Aziz Suat,Gunsel ^[1] ; Mahmut Cerkez,Ergoren ^[2] ; Hatice,Kemal ^[1] ; Haniyeh Rahbar,Kafshboran ^[3] ; Levent,Cerit ^[1] ; Ayla,Turgay ^[4] ; Hamza,Duygu ^[1]

作者单位： Department of Cardiology, Faculty of Medicine, Near East University, Nicosia 99138, Cyprus. ^[1] Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia 99138, Cyprus.;Laboratory of Medical Genetics, Near East University Hospital, Near East University, Nicosia 99138, Cyprus. ^[2] Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia 99138, Cyprus. ^[3] Laboratory of Medical Genetics, Near East University Hospital, Near East University, Nicosia 99138, Cyprus. ^[4]

关键词 Turkish Cypriot allele frequency mendelian disease whole-exome sequencing

主题词人类(Humans);突变(Mutation);基因频率(Gene Frequency);基因组学(Genomics);肾上腺增生, 先天性(Adrenal Hyperplasia, Congenital);囊性纤维化(Cystic Fibrosis);类固醇21-羟化酶(Steroid 21-Hydroxylase)

DOI 10.3390/genes14101967

PMID 37895316

发布时间 2023-11-04

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