Varaico: Literature-Extracted Genetic Variants

Gene:GABRB2
Variant:p.L283P
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GABRB2

NM_001371727.1:p.L283P

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 › Sheet2

Pathogenicity Prediction of GABAA Receptor Missense Variants.

Wang YJ et al.

Biorxiv : the Preprint Server for Biology, 2023

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

Miller CR et al.

Cold Spring Harbor Molecular Case Studies, 2020

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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."