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...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	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
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	BMC 2024-03-01
Sarja:	Genome Medicine
Aiheet:	CFTR Whole exome sequencing UK biobank Cystic fibrosis
Linkit:	https://doi.org/10.1186/s13073-024-01316-5
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