Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K447K
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CFTR

NM_000492.4:p.K447K

Associated Papers

Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenic CFTR mutation: a retrospective cohort analysis.

Papadakis L et al.

Erj Open Research, 2025

41189580 (PubMed )
Supplement: 00007-2025.SUPPLEMENT.pdf

The French compassionate programme of elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with advanced lung disease and no F508del CFTR variant.

Burgel PR et al.

The European Respiratory Journal, 2023

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt.

El-Seedy A et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2016

[Influence of a genetic component on the propensity of dust-exposed workers to visceropathies (on the pattern of detecting polymorphisms in the transmembrane conductance regulatory protein CFTR gene)].

Peskov SA et al.

Meditsina Truda I Promyshlennaia Ekologiia, 2013

CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing.

Moya-Quiles MR et al.

Clinical Genetics, 2009

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.

Alonso MJ et al.

Annals of Human Genetics, 2007

Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.

Kinnunen S et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2005

Spatial patterns of cystic fibrosis mutation spectra in European populations.

Lao O et al.

European Journal of Human Genetics : Ejhg, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."