Article

The landscape of <i>SETBP1</i> gene expression and transcription factor activity across human tissues

2023-08-08

Abstract excerpt

<h4>Background</h4> The SET binding protein 1 ( SETBP1 ) gene encodes a transcription factor (TF) involved in various cellular processes. Distinct SETBP1 variants have been linked to three different diseases. Germline variants cause the ultra-rare pediatric Schinzel Giedion Syndrome (SGS) and SETBP1 haploinsufficiency disorder ( SETBP1 -HD), characterized by severe multisystemic abnormalities with neurodegene...

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Literature Corpus work: e1881efd-9b60-5429-97b0-41eb63186096
DOI: 10.1101/2023.08.08.551337

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