Associated Papers
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.
German HM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene.
Çapan ÖY et al.
Seizure, 2024
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