Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K1060delFs
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CFTR

NM_000492.4:p.K1060delFs

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

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

Identification and selection of healthy spermatozoa in heterozygous carriers of the Phe508del-variant of the CFTR-gene in assisted reproduction.

De Geyter J et al.

Scientific Reports, 2022

35115637 (PubMed )
Supplement: 41598_2022_5925_MOESM3_ESM.pdf
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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."