Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E1538fs
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APC

NM_000038.6:p.E1538fs

Associated Papers

Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies.

Büki G et al.

International Journal of Molecular Sciences, 2024

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.

Alba-Pavón P et al.

Translational Pediatrics, 2023

Accumulated genetic mutations leading to accelerated initiation and progression of colorectal cancer in a patient with Gardner syndrome: A case report.

Gu X et al.

Medicine, 2021

Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome.

Besteiro B et al.

Case Reports in Gastrointestinal Medicine, 2020

Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.

Yurgelun MB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

Khan N et al.

Scientific Reports, 2017

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Cruz-Correa M et al.

Hereditary Cancer in Clinical Practice, 2017

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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."