Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q215_R216Splc
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APC

NM_000038.6:p.Q215_R216Splc

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 › d_Exp-data

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

A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Xiao J et al.

Bmc Cancer, 2021

33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2

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

Molecular characterization by array comparative genomic hybridization and DNA sequencing of 194 desmoid tumors.

Salas S et al.

Genes, Chromosomes & Cancer, 2010

Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

Aceto G et al.

Human Mutation, 2005

[Pilot clinical and genetic study of Russian patients with Peutz-Jeghers syndrome].

Shelygin YA et al.

Voprosy Onkologii, 0

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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."