Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.F861fs
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CFTR

NM_000492.4:p.F861fs

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

Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients.

Rudnik-Schöneborn S et al.

Human Reproduction (oxford, England), 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

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

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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."