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
41073373 (PubMed )
Supplement: 41467_2025_64074_MOESM14_ESM.zip › SourceData › SourceData9_forFig6f-g_count_sholl.xlsx › SD9.1_forFig6D
Correction to "The Impact of SETBP1 Mutations in Neurological Diseases and Cancer".
Unknown Author
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2025
Prenatal diagnosis of intellectual disability, autosomal dominant 29 with a nonsense pathogenic variant in SETBP1: a case report and literature review.
Wei Z et al.
Frontiers in Genetics, 2025
40144891 (PubMed )
Supplement: Table1.xlsx › cases
Novel SETBP1 mutation in a chinese family with intellectual disability.
Wang L et al.
Bmc Medical Genomics, 2023
37798664 (PubMed )
Supplement: 12920_2023_1649_MOESM1_ESM.xlsx › Table_3_overall_data
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP et al.
Nature Genetics, 2014
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