Associated Papers
Delineating the Adult Phenotype of PGM2L1-Related Neurodevelopmental Disorder.
Ercoskun P et al.
American Journal of Medical Genetics. Part A, 2025
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
Morava E et al.
American Journal of Human Genetics, 2021
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