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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Bibliografische Detailangaben

Hauptverfasser:	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
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2024-03-01
Schriftenreihe:	Genome Medicine
Schlagworte:	CFTR Whole exome sequencing UK biobank Cystic fibrosis
Online-Zugang:	https://doi.org/10.1186/s13073-024-01316-5
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