Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R289_Q290delFs
Back to variants list

CFTR

NM_000492.4:p.R289_Q290delFs

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

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

Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.

Yıldız CA et al.

Pediatric Pulmonology, 2024

The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Erdoğan M et al.

Balkan Medical Journal, 2021

Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population.

Zybert K et al.

Pediatric Pulmonology, 2020

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."