Varaico: Literature-Extracted Genetic Variants

Gene:GABRB3
Variant:p.N290H
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GABRB3

NM_000814.6:p.N290H

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 › Sheet3

Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program.

Balci TB et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025

Pathogenicity Prediction of GABAA Receptor Missense Variants.

Wang YJ et al.

Biorxiv : the Preprint Server for Biology, 2023

38014242 (PubMed )
Supplement: media-3.xlsx › b3_CV-AM-RS
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