Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.K49_Q50delFs
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APC

NM_000038.6:p.K49_Q50delFs

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

Interplay between WNT/PI3K-mTOR axis and the microbiota in APC-driven colorectal carcinogenesis: data from a pilot study and possible implications for CRC prevention.

Di Paola FJ et al.

Journal of Translational Medicine, 2024

38970018 (PubMed )
Supplement: 12967_2024_5305_MOESM1_ESM.docx

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.

Spier I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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

Vibert R et al.

Journal of Medical Genetics, 2023

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.

Hassanin E et al.

Bmc Medical Genomics, 2023

36872334 (PubMed )
Supplement: 12920_2023_1469_MOESM1_ESM.xlsx › Sheet1

Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.

Lorca V et al.

Scientific Reports, 2019

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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."