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
Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications.
Guijarro F et al.
International Journal of Molecular Sciences, 2024
39201354 (PubMed )
Supplement: ijms-25-08669-s001.zip › ijms-3087068-supplementary › Supplementary_Tables_S1-S5.xlsx › Table_S1
The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.
Anwar N et al.
Bmc Genomics, 2021
34915860 (PubMed )
Supplement: 12864_2021_8221_MOESM2_ESM.xlsx › Sheet1
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R et al.
Plos Genetics, 2017
28346496 (PubMed )
Supplement: pgen.1006683.s003.pdf
A novel mutation of SETBP1 in atypical chronic myeloid leukemia transformed from acute myelomonocytic leukemia.
Hu W et al.
Clinical Case Reports, 2015
SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.
Meggendorfer M et al.
Leukemia, 2013
Select a paper to view details