Associated Papers
Recurrent Neurodevelopmentally Associated Variants of the Pre-mRNA Splicing Factor U2AF2 Alter RNA Binding Affinities and Interactions.
Maji D et al.
Biochemistry, 2024
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
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