Varaico: Literature-Extracted Genetic Variants

Gene:GABRG2
Variant:p.V287L
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GABRG2

NM_198904.4:p.V287L

Associated Papers

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons.

Arslan A et al.

Journal of Visualized Experiments : Jove, 2025

40549733 (PubMed )
Supplement: R_Supplementary20File204_11_May_2025.zip › R_Supplementary_File_4_11_May_2025 › Supplementary_Table_S7_R.xlsx › Sheet4

Dravet syndrome-associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABAA receptors.

Hernandez CC et al.

Brain Communications, 2021

34095830 (PubMed )
Supplement: fcab033_Supplementary_Data.pdf

Neuronal nicotinic receptors in sleep-related epilepsy: studies in integrative biology.

Becchetti A

Isrn Biochemistry, 2012

Genes associated with idiopathic epilepsies: a current overview.

Lu Y et al.

Neurological Research, 2009

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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."