Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q290Splc
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CFTR

NM_000492.4:p.Q290Splc

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

Mutation characterisation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in people with cystic fibrosis in Northern Ireland.

Blevings PJ et al.

The Ulster Medical Journal, 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
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