Associated Papers
U2AF2 Missense Variant Associated With Epilepsy and Systemic Dysmorphism: Report of Two Cases and Literature Review.
Huang S et al.
Clinical Case Reports, 2025
Recurrent Neurodevelopmentally Associated Variants of the Pre-mRNA Splicing Factor U2AF2 Alter RNA Binding Affinities and Interactions.
Maji D et al.
Biochemistry, 2024
A high proportion of germline variants in pediatric chronic myeloid leukemia.
Krumbholz M et al.
Molecular Cancer, 2024
39327604 (PubMed )
Supplement: 12943_2024_2109_MOESM2_ESM.xlsx › Suppl_Table_6
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D et al.
The Journal of Clinical Investigation, 2024
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2023
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM5_ESM.xlsx › Supplementary_Data_3
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