Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R697insFs
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CFTR

NM_000492.4:p.R697insFs

Associated Papers

Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.

Burgel PR et al.

Eclinicalmedicine, 2025

40932846 (PubMed )
Supplement: mmc2.xlsx › TRUE

Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.

Ahting S et al.

International Journal of Molecular Sciences, 2025

40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants__genomic_info

Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators.

Yıldız CA et al.

Pediatric Pulmonology, 2024

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.

Kondratyeva E et al.

Frontiers in Genetics, 2024

39529847 (PubMed )
Supplement: Table1.XLSX › Supplement_1

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Multicenter Surveillance of Cystic Fibrosis in Korean Children.

Kim HY et al.

Allergy, Asthma & Immunology Research, 2022

Unusual Cystic Fibrosis Transmembrane Conductance Regulator Mutations and Liver Disease: A Case Series and Review of the Literature.

Khan HH et al.

Transplantation Proceedings, 2019

Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.

Singh M et al.

Respirology (carlton, Vic.), 2015

Erratum: Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.

Unknown Author

Annals of Laboratory Medicine, 2015

Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population.

Essawi O et al.

Disease Markers, 2015

Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

Ko JM et al.

Journal of Korean Medical Science, 2008

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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."