Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R1051delFs
Back to variants list

APC

NM_000038.6:p.R1051delFs

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

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

Andresen PA et al.

Journal of Cancer Research and Clinical Oncology, 2009

Novel mutations in the APC gene and clinical features in Swedish patients with polyposis coli.

Nordling M et al.

Anticancer Research, 0

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."