SETBP1-RD

Research Publications for SETBP1-RD

4714534 DVH824T5 1 apa 50 date desc 1 title 7531 https://www.setbp1.org/wp-content/plugins/zotpress/
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Wong, M. M. K., & Kampen, R. A. (2025). SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder. Nature Communications, 16(1), 9021. https://doi.org/10.1038/s41467-025-64074-x
Liu, L., Feng, X., & Liu, S. (2022). Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1. Frontiers in Neuroscience, (16), 980000.
Leonardi, E., Bettella, E., Pelizza, M. F., Aspromonte, M. C., Polli, R., Boniver, C., Sartori, S., Milani, D., & Murgia, A. (2020). Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With Developmental and Epileptic Encephalopathy. Frontiers in Neurology, (11), 5934–5946.