Varaico: Literature-Extracted Genetic Variants

Gene:AXIN2
Variant:p.L608delFs
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AXIN2

NM_004655.4:p.L608delFs

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

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-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.

Roht L et al.

Molecular Genetics & Genomic Medicine, 2023

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

Chan JM et al.

Familial Cancer, 2022

Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma.

Macklin-Mantia SK et al.

Bmc Medical Genetics, 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."