Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I1051delFs
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CFTR

NM_000492.4:p.I1051delFs

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

Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.

Kanavakis E et al.

Clinical Genetics, 2003

Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.

Tzetis M et al.

Human Genetics, 1997

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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."