Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.S1148_E1149delFs
Back to variants list

APC

NM_000038.6:p.S1148_E1149delFs

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

Adrenal tumours in patients with pathogenic APC mutations: a retrospective study.

Lin L et al.

Hereditary Cancer in Clinical Practice, 2024

APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?

Vibert R et al.

Journal of Medical Genetics, 2023

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."