Associated Papers
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
Mohammadi NA et al.
Ebiomedicine, 2024
High number of candidate gene variants are identified as disease-causing in a period of 4 years.
Hills S et al.
American Journal of Medical Genetics. Part A, 2024
Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
El Achkar CM et al.
Annals of Neurology, 2021
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