Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.L479_Q480del1
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APC

NM_000038.6:p.L479_Q480del1

Associated Papers

Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.

Cammarota F et al.

Biomedicines, 2026

Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study.

Karstensen JG et al.

European Journal of Human Genetics : Ejhg, 2024

MUTYH-associated colorectal cancer and adenomatous polyposis.

Yamaguchi S et al.

Surgery Today, 2014

Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.

Ruggieri V et al.

Oncogene, 2013

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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."