Associated Papers
Pathogenic DDX39A Variant Disrupts Nuclear Homeostasis and Causes an Early-Onset Neurodegenerative Disorder With Cerebral Atrophy.
Ahmad SR et al.
Clinical Genetics, 2026
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.
Booth KTA et al.
Brain : a Journal of Neurology, 2025
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