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
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
Select a paper to view details