Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R168*
Back to variants list

APC

NM_000038.6:p.R168*

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

The Mutation Spectrum and Two Novel Point Mutations in the APC Gene in Vietnamese Patients with Familial Adenomatous Polyposis.

Nguyen BH et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2022

Highly multiplexed quantifications of 299 somatic mutations in colorectal cancer patients by automated MALDI-TOF mass spectrometry.

Xu C et al.

Bmc Medical Genomics, 2020

33008377 (PubMed )
Supplement: 12920_2020_804_MOESM1_ESM.xls › SuppTable1

Strategies and outcomes of PGD of familial adenomatous polyposis.

Moutou C et al.

Molecular Human Reproduction, 2007

Multiple gynecologic tumors as rare associated phenotypes of FAP/Gardner syndrome in a family with the novel germline mutation in the APC gene.

Kovac M et al.

Clinical Genetics, 2006

Genetic testing for familial adenomatous polyposis.

Ballhausen WG

Annals of the New York Academy of Sciences, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."