Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K1177*
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CFTR

NM_000492.4:p.K1177*

Associated Papers

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

Exploring the diversity of CFTR gene mutations in cystic fibrosis individuals of South Asia.

Rafique H et al.

The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 2024

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.

Al Oraimi S et al.

Oman Medical Journal, 2022

CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review.

Alibakhshi R et al.

Pediatric Pulmonology, 2021

Sequencing as a first-line methodology for cystic fibrosis carrier screening.

Beauchamp KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31036917 (PubMed )
Supplement: 41436_2019_525_MOESM3_ESM.xlsx › Sheet1

Facilitating Structure-Function Studies of CFTR Modulator Sites with Efficiencies in Mutagenesis and Functional Screening.

Molinski SV et al.

Journal of Biomolecular Screening, 2015

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

Singh M et al.

Respirology (carlton, Vic.), 2015

Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.

Alibakhshi R et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008

Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients.

Alibakhshi R et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2006

A haplotype framework for cystic fibrosis mutations in Iran.

Elahi E et al.

The Journal of Molecular Diagnostics : Jmd, 2006

Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations.

Kambouris M et al.

European Journal of Pediatrics, 2000

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Banjar HH et al.

Annals of Saudi Medicine, 0

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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."