SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
SETBP1基因降解子以外的变异会破坏其DNA结合、转录和神经元分化能力，从而导致异质性神经发育障碍。
期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-025-64074-x
Wong, Maggie M K; Kampen, Rosalie A; Braden, Ruth O; Alagöz, Gökberk; Hildebrand, Michael S; Dingemans, Alexander J M; Corbally, Jean; den Hoed, Joery; Mendoza, Ezequiel; Claassen, Willemijn J J; Barnett, Christopher; Barnett, Meghan; Brusco, Alfredo; Carli, Diana; de Vries, Bert B A; Elmslie, Frances; Ferrero, Giovanni Battista; Jansen, Nadieh A; van de Laar, Ingrid M B H; Moroni, Alice; Mowat, David; Murray, Lucinda; Novara, Francesca; Peron, Angela; Scheffer, Ingrid E; Sirchia, Fabio; Turner, Samantha J; Vignoli, Aglaia; Vino, Arianna; Weber, Sacha; Chung, Wendy K; Gerard, Marion; López-González, Vanesa; Palmer, Elizabeth; Morgan, Angela T; van Bon, Bregje W; Fisher, Simon E
