" /> UBTF Exon 13 Tandem Duplication - CISMeF





Preferred Label : UBTF Exon 13 Tandem Duplication;

NCIt synonyms : Upstream Binding Transcription Factor Exon 13 Tandem Duplication; UBF2 Exon 13 Tandem Duplication; UBF Exon 13 Tandem Duplication; UBF1 Exon 13 Tandem Duplication; NOR-90 Exon 13 Tandem Duplication; UBTF-TD; UBTF Exon 13 Internal Tandem Duplication; UBTF Internal Tandem Duplication; UBTF Exon 13 ITD; UBTF-ITD;

NCIt definition : Rearrangement of the UBTF gene involving either in-frame insertions at the 3' end of exon 13 or in-frame duplications of exon 13. These rearrangements encode duplications of leucine-rich sequences of the high mobility group domain 4 of the nucleolar transcription factor 1 protein, which may promote cellular transformation and is associated with pediatric acute myeloid leukemia.;

NCI Metathesaurus CUI : CL1778760;

PubMed : 35176137;

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30/05/2025


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