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Article

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

Genome medicine - 21 Mar 2024

Ideozu Justin E, Liu Mengzhen, Riley-Gillis Bridget M, Paladugu Sri R, Rahimov Fedik, Krishnan Preethi, Tripathi Rakesh, Dorr Patrick, Levy Hara, Singh Ashvani, Waring Jeffrey F, Vasanthakumar Aparna

Abstract excerpt

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 worsened health outcomes for patients. Therefore, characterizing the spectrum of CFTR variants across ancestries is critical...

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Identifiers

PMID: 38515211
DOI: 10.1186/s13073-024-01316-5
PMCID: PMC10956269

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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