Varaico: Literature-Extracted Genetic Variants

Gene:GABBR2
Variant:p.R212Q
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GABBR2

NM_005458.8:p.R212Q

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

Presynaptic hyperexcitability reversed by positive allosteric modulation of a GABABR epilepsy variant.

Minere M et al.

Brain : a Journal of Neurology, 2025

Genetic implication of GABAB receptors in the etiology of neurological and psychiatric disorders.

Gassmann M et al.

Frontiers in Pharmacology, 2025

Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.

Cannizzaro IR et al.

International Journal of Molecular Sciences, 2024

39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Primary_tumor_ACMG_AMP

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."