Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.P2086Q
Back to variants list

APC

NM_000038.6:p.P2086Q

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: mmc1.pdf

A Comprehensive Overview of Coagulation Factor V and Congenital Factor V Deficiency.

Tabibian S et al.

Seminars in Thrombosis and Hemostasis, 2019

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

Vogelaar IP et al.

European Journal of Human Genetics : Ejhg, 2017

28875981 (PubMed )
Supplement: ejhg2017138x4.xlsx › Suppl_Table_4
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."