Varaico: Literature-Extracted Genetic Variants

Gene:GABBR2
Variant:p.R212W
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GABBR2

NM_005458.8:p.R212W

Associated Papers

Normalization of network activity in an epilepsy model with a constitutively active GABBR2 variant.

Stawarski M et al.

Brain : a Journal of Neurology, 2025

Characterization of a de novo GABBR2 variant linked to autism spectrum disorder.

Bielopolski N et al.

Frontiers in Molecular Neuroscience, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."