Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L812*
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CFTR

NM_000492.4:p.L812*

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

Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.

Mei-Zahav M et al.

Erj Open Research, 2025

39811546 (PubMed )
Supplement: 00587-2024.SUPPLEMENT.pdf

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.

Kondratyeva E et al.

Frontiers in Genetics, 2024

39529847 (PubMed )
Supplement: Table1.XLSX › Supplement_1

Sequencing of the CFTR gene in selected Turkish patients with cystic fibrosis.

Çankaya T et al.

Minerva Pediatrica, 2015

[Molecular genetic analysis of TUB18 and TUB20 intragenic polymorphism and various mutations of the CFTR gene in the Moscow region].

Sazonova MA et al.

Genetika, 1997

[TUB9 polymorphism in the CFTR gene of cystic fibrosis patients, carriers, and healthy donors from the Moscow region. SSCP and restriction analyses].

Amosenko FA et al.

Genetika, 1997

[Analysis of various polymorphic markers of the CFTR gene in cystic fibrosis patients and healthy donors from the Moscow region].

Amosenko FA et al.

Genetika, 1995

[Portion of certain cystic fibrosis gene mutations and linkage dysequilibrium between the CFTR-gene locus and two DNA marker loci in Russian populations].

Petrova NV et al.

Genetika, 1994

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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."