Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R141Splc
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APC

NM_000038.6:p.R141Splc

Associated Papers

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

Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer.

Kim B et al.

Annals of Laboratory Medicine, 2024

37903652 (PubMed )
Supplement: alm-44-2-164-supple1.xlsx › Assay_B

Tumor Evolution in a Patient with Recurrent Endometrial Cancer and Synchronous Neuroendocrine Cancer and Response to Checkpoint Inhibitor Treatment.

Trikalinos NA et al.

The Oncologist, 2021

Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.

Papp J et al.

Familial Cancer, 2016

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Palles C et al.

Nature Genetics, 2013

An AT-rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screening.

Palmirotta R et al.

Human Mutation, 2012

Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.

Rivera B et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2011

Allele-specific expression of APC in adenomatous polyposis families.

Castellsagué E et al.

Gastroenterology, 2010

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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."