Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A959fs
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CFTR

NM_000492.4:p.A959fs

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

Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.

Markulić J et al.

Bmj Open, 2025

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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