Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q1127*
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APC

NM_000038.6:p.Q1127*

Associated Papers

Somatic DICER1 pathogenic variants detected in a well-differentiated fetal lung adenocarcinoma diagnosed in a man with familial adenomatous polyposis.

Ahmed A et al.

Bjc Reports, 2025

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Yin X et al.

American Journal of Human Genetics, 2024

39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data

One-step generation of tumor models by base editor multiplexing in adult stem cell-derived organoids.

Geurts MH et al.

Nature Communications, 2023

A survey of APC mutations in Quebec.

Jarry J et al.

Familial Cancer, 2011

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

Aretz S et al.

Human Mutation, 2007

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Friedl W et al.

Hereditary Cancer in Clinical Practice, 2005

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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."