Varaico: Literature-Extracted Genetic Variants

Gene:GABRA1
Variant:p.P280L
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GABRA1

NM_001127644.2:p.P280L

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

Pathogenicity Prediction of GABAA Receptor Missense Variants.

Wang YJ et al.

Biorxiv : the Preprint Server for Biology, 2023

Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders.

Kim SH et al.

The Journal of Molecular Diagnostics : Jmd, 2023

Analysis of trio test in neurodevelopmental disorders.

Kim SH et al.

Frontiers in Pediatrics, 2022

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.

Burgess R et al.

Annals of Neurology, 2019

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.

Symonds JD et al.

Brain : a Journal of Neurology, 2019

31302675 (PubMed )
Supplement: awz195_supplementary_data.zip › awz195-suppl_data › awz195_Supplementary_Table.pdf

Genetics of idiopathic epilepsies.

Hirose S et al.

Epilepsia, 2005

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