Varaico: Literature-Extracted Genetic Variants

Gene:GABRG2
Variant:p.A334T
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GABRG2

NM_198904.4:p.A334T

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 › Sheet1

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Unknown Author

Nature Neuroscience, 2024

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Chen S et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Pathogenicity Prediction of GABAA Receptor Missense Variants.

Wang YJ et al.

Biorxiv : the Preprint Server for Biology, 2023

38014242 (PubMed )
Supplement: media-4.xlsx › g2_CV-AM-RS

Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies.

Haviland I et al.

Pediatric Neurology, 2023

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

SoRelle JA et al.

Jama Network Open, 2020

32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf

γ2 GABAAR Trafficking and the Consequences of Human Genetic Variation.

Lorenz-Guertin JM et al.

Frontiers in Cellular Neuroscience, 2018

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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."