Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L999_I1000delFs
Back to variants list

CFTR

NM_000492.4:p.L999_I1000delFs

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

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.

Tümmler B

Frontiers in Pharmacology, 2023

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.

Liu K et al.

Orphanet Journal of Rare Diseases, 2020

CFTR Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy.

El-Seedy AS et al.

Frontiers in Genetics, 2017

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

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

Singh M et al.

Respirology (carlton, Vic.), 2015

[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

Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France.

Scotet V et al.

American Journal of Obstetrics and Gynecology, 2010

Evaluation of clinical and genetic characteristics of cystic fibrosis patients in the Southeastern Anatolia of Turkey.

Arik E et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."