Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.A385fs
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APC

NM_000038.6:p.A385fs

Associated Papers

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

Cammarota F et al.

Biomedicines, 2026

Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.

Dell'Elice A et al.

Molecular Genetics & Genomic Medicine, 2021

Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis.

Ricci MT et al.

Tumori, 2019

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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."