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_MOESM6_ESM.xlsx › Sheet1
Correction to "The Impact of SETBP1 Mutations in Neurological Diseases and Cancer".
Unknown Author
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2025
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Aspromonte MC et al.
Human Genetics, 2025
40019509 (PubMed )
Supplement: 439_2025_2733_MOESM2_ESM.xlsx › Table_S2
The impact of SETBP1 mutations in neurological diseases and cancer.
Kohyanagi N et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2023
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy".
Leonardi E et al.
Frontiers in Neurology, 2020
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