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A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia
BACKGROUND: WNT signaling is pivotal in embryogenesis and tissue homeostasis. Aberrant WNT signaling, due to mutations in components of this pathway, contributes to the development and progression of human cancers, including colorectal cancer. AXIN2, encoded by the AXIN2 gene, is a key negative regu...
Autores principales: | Broekema, M. F., Redeker, E. J. W., Uiterwaal, M. T., van Hest, L. P. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10464116/ https://www.ncbi.nlm.nih.gov/pubmed/37626374 http://dx.doi.org/10.1186/s13053-023-00260-6 |
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