Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.N1303insFs
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CFTR

NM_000492.4:p.N1303insFs

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_by_legacy_name

Multicenter Surveillance of Cystic Fibrosis in Korean Children.

Kim HY et al.

Allergy, Asthma & Immunology Research, 2022

Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.

Zhou Y et al.

Human Genetics, 2022

34652573 (PubMed )
Supplement: 439_2021_2385_MOESM4_ESM.xlsx › Sheet1

Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.

Mikhael S et al.

Human Genetics, 2021

Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.

Singh M et al.

Respirology (carlton, Vic.), 2015

Erratum: Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.

Unknown Author

Annals of Laboratory Medicine, 2015

Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.

Jung H et al.

The Korean Journal of Laboratory Medicine, 2011

Novel CFTR mutations in a Korean infant with cystic fibrosis and pancreatic insufficiency.

Choe YJ et al.

Journal of Korean Medical Science, 2010

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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."