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Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis
BACKGROUND: In the past decade, SETBP1 has attracted a lot of interest on that the same gene with different type or level (germline or somatic) of variants could provoke different pathologic consequences such as Schinzel-Giedon syndrome, SETBP1 Haploinsufficiency Disorder (SETBP1-HD) and myeloid mal...
Autores principales: | , , , , , , , , |
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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/PMC10165755/ https://www.ncbi.nlm.nih.gov/pubmed/37150818 http://dx.doi.org/10.1186/s13023-023-02705-6 |