Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences

Abstract Background Limited understanding of the diversity of variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene across ancestries hampers efforts to advance molecular diagnosis of cystic fibrosis (CF). The consequences pose a risk of delayed diagnoses and subsequently w...

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出版年:	Genome Medicine
主要な著者:	Justin E. Ideozu, Mengzhen Liu, Bridget M. Riley-Gillis, Sri R. Paladugu, Fedik Rahimov, Preethi Krishnan, Rakesh Tripathi, Patrick Dorr, Hara Levy, Ashvani Singh, Jeffrey F. Waring, Aparna Vasanthakumar
フォーマット:	論文
言語:	英語
出版事項:	BMC 2024-03-01
主題:	CFTR Whole exome sequencing UK biobank Cystic fibrosis
オンライン･アクセス:	https://doi.org/10.1186/s13073-024-01316-5