Varaico: Literature-Extracted Genetic Variants

Gene:GABRB2
Variant:p.P252T
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GABRB2

NM_001371727.1:p.P252T

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

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2

Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.

Yang Y et al.

Developmental Medicine and Child Neurology, 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."