Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G27V
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CFTR

NM_000492.4:p.G27V

Associated Papers

Highly Effective Modulator Therapy in Cystic Fibrosis: Addressing Unusual Variants in the Middle East.

Isse S et al.

Pulmonary Medicine, 2025

CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south India.

Varkki SD et al.

The Lancet Regional Health. Southeast Asia, 2024

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2

Classic Cystic Fibrosis Presentation in Two Middle Eastern Siblings with a rare CFTR mutation (c.80G>T).

Hafiz S et al.

European Journal of Case Reports in Internal Medicine, 2023

Biliary disease and cholecystectomy after initiation of elexacaftor/ivacaftor/tezacaftor in adults with cystic fibrosis.

Safirstein J et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2021

A current review of the safety of cystic fibrosis transmembrane conductance regulator modulators.

Gavioli EM et al.

Journal of Clinical Pharmacy and Therapeutics, 2021

Vitamin E status and its determinants in patients with cystic fibrosis.

Sapiejka E et al.

Advances in Medical Sciences, 2018

CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Ziętkiewicz E et al.

Plos One, 2014

Vitamin A status and its determinants in patients with cystic fibrosis.

Sapiejka E et al.

Acta Scientiarum Polonorum. Technologia Alimentaria, 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."