Varaico: Literature-Extracted Genetic Variants

Gene:AXIN2
Variant:p.N666fs
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AXIN2

NM_004655.4:p.N666fs

Associated Papers

Two novel AXIN2 variants in isolated tooth agenesis and the AXIN2-associated tooth agenesis pattern.

Geng C et al.

Bmc Oral Health, 2025

Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.

Aceves-Ewing NM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.

López Rivera JJ et al.

Journal of Personalized Medicine, 2024

39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb

A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia.

Broekema MF et al.

Hereditary Cancer in Clinical Practice, 2023

AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.

Leclerc J et al.

Genes, Chromosomes & Cancer, 2023

Clinical and genetic characteristics in lymphoma patients with a second solid malignancy.

Zhou D et al.

Frontiers in Oncology, 2023

37546421 (PubMed )
Supplement: DataSheet_1.xlsx › Sheet1

Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.

Chan JM et al.

Familial Cancer, 2022

Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?

Jensen JM et al.

Familial Cancer, 2022

An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant.

Macklin-Mantia SK et al.

Hereditary Cancer in Clinical Practice, 2020

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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."