Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V938fs
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CFTR

NM_000492.4:p.V938fs

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

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Nykamp K et al.

Human Mutation, 2021

34196078 (PubMed )
Supplement: HUMU-42-1165-s002.xlsx › Sheet1

Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.

Cambraia A et al.

Disease Markers, 2021

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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."