Varaico: Literature-Extracted Genetic Variants

Gene:GABRB2
Variant:p.I299L
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GABRB2

NM_001371727.1:p.I299L

Associated Papers

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

Mohammadi NA et al.

Ebiomedicine, 2024

Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.

Sedlackova L et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024

Characterization of the GABRB2-Associated Neurodevelopmental Disorders.

El Achkar CM et al.

Annals of Neurology, 2021

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