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Paper Details

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Brain
7
2023
C. elegans, LC3, LGG-1, MDCD, MYCBP2, MYCBP2 variants, Neurodevelopmental disorders, RING ubiquitin ligase, RPM-1, autistic features, axon fibers, axonal and behavioral abnormalities, corpus callosum abnormalities, corpus callosum defects, developmental delay, dysgenesis of the corpus callosum, epilepsy, human, intellectual disability, neurodevelopmental disorder, neurodevelopmental spectrum disorder, patient, patients, rpm, rpm-1, ubiquitin ligase
Author NameAffiliation
Seema R LalaniBaylor College of Medicine
Ning ZhengUniversity of Washington School of Medicine
Ning ZhengHoward Hughes Medical Institute, University of Washington
Fowzan S AlkurayaCenter for Genomic Medicine, King Faisal Specialist Hospital and Research Center
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