Associated Papers
Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy.
Oh DE et al.
Scientific Reports, 2025
Prevalence of lysosomal storage disease (LSD) in Malaysia.
Omar A et al.
The Malaysian Journal of Pathology, 2025
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG et al.
American Journal of Human Genetics, 2024
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