Associated Papers
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.
Wong MMK et al.
Nature Communications, 2025
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied
Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1.
Liu L et al.
Frontiers in Neuroscience, 2022
36161179 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Table_S5
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