Genetic & Genomic MedicinemedRxivPreprint
SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder
Maggie M. K. Wong, Rosalie A. Kampen, Ruth O. Braden…·Simon E. Fisher
The paper investigates SETBP1 variants outside the degron, showing they cause a heterogeneous neurodevelopmental disorder through loss-of-function mechanisms independent of protein abundance.
6 citations