Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E84Splc
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APC

NM_001127511.3:p.E84Splc

Associated Papers

Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.

Cammarota F et al.

Biomedicines, 2026

Diagnostic yield of genetic screening in a diverse, community-ascertained cohort.

Rao ND et al.

Genome Medicine, 2023

Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.

Poliani L et al.

Esmo Open, 2022

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

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC et al.

Nature Genetics, 2015

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

Pritchard CC et al.

The Journal of Molecular Diagnostics : Jmd, 2012

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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."