Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.G471delFs
Back to variants list

APC

NM_000038.6:p.G471delFs

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

Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Kleeman SO et al.

Gut, 2020

31563876 (PubMed )
Supplement: gutjnl-2019-319126supp003.xlsx › Sup_Table_3

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

Cruz-Correa M et al.

Hereditary Cancer in Clinical Practice, 2017

Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

Kaufmann A et al.

The Journal of Molecular Diagnostics : Jmd, 2009

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

Friedl W et al.

Hereditary Cancer in Clinical Practice, 2005

APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations.

García-Lozano JR et al.

Genetic Testing, 2005

Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families.

Friedl W et al.

Gut, 2001

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."