Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K1302*
Back to variants list

CFTR

NM_000492.4:p.K1302*

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_by_legacy_name

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

Yıldız CA et al.

Pediatric Pulmonology, 2024

Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.

Mention K et al.

Human Molecular Genetics, 2023

37649273 (PubMed )
Supplement: all_supplemental_figures_and_tables_final_ddad143.pdf

CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review.

Alibakhshi R et al.

Pediatric Pulmonology, 2021

Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul.

Atag E et al.

Pediatric Pulmonology, 2019

Spectrum of CFTR gene mutations in Iranian Azeri Turkish patients with cystic fibrosis.

Bonyadi M et al.

Genetic Testing and Molecular Biomarkers, 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."