Varaico: Literature-Extracted Genetic Variants

Gene:AXIN2
Variant:p.A758T
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AXIN2

NM_004655.4:p.A758T

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

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

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

36502525 (PubMed )
Supplement: GCC-62-210-s001.xlsx › AXIN2_variants

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes

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

Chan JM et al.

Familial Cancer, 2022

Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen.

Aaquist T et al.

Pathology, Research and Practice, 2021

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Djursby M et al.

Frontiers in Genetics, 2020

33193653 (PubMed )
Supplement: Table_1.xlsx › VUS_er_klassificering

The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.

Williams MA et al.

Genes, 2018

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2018

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_TSG

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2

Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis.

Yue H et al.

European Journal of Oral Sciences, 2016

A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia.

Liu H et al.

Plos One, 2015

The genomic landscape of pediatric Ewing sarcoma.

Crompton BD et al.

Cancer Discovery, 2014

25186949 (PubMed )
Supplement: 21598290cd131037-sup-124608_2_supp_2613705_nwcnpj.xlsx › 16_MAF_cell_line

Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia.

Wong S et al.

Archives of Oral Biology, 2014

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.

Bergendal B et al.

American Journal of Medical Genetics. Part A, 2011

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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."