Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V739fs
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CFTR

NM_000492.4:p.V739fs

Associated Papers

Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.

Prizment A et al.

Human Molecular Genetics, 2025

39825500 (PubMed )
Supplement: supplementary_tables_ddaf007.xlsx › STable3

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.

Sicko RJ et al.

International Journal of Neonatal Screening, 2021

34842611 (PubMed )
Supplement: IJNS-07-00073-s001.zip › Sicko_et_al__NYS_CF_NGS_Panel_Supplemental_Table_S2.pdf

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

Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.

Soltysova A et al.

The Clinical Respiratory Journal, 2018

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

Girardet A et al.

European Journal of Human Genetics : Ejhg, 2016

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."