Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V754delFs
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CFTR

NM_000492.4:p.V754delFs

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

Exploring the diversity of CFTR gene mutations in cystic fibrosis individuals of South Asia.

Rafique H et al.

The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 2024

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

Alibakhshi R et al.

Pediatric Pulmonology, 2021

CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations.

Karimi N et al.

Journal of Reproduction & Infertility, 0

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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."