Varaico: Literature-Extracted Genetic Variants

Gene:GABRB3
Variant:p.P54L
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GABRB3

NM_000814.6:p.P54L

Associated Papers

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

Maillard PY et al.

Epilepsia, 2022

35718920 (PubMed )
Supplement: EPI-63-2519-s001.xlsx › Feuil1

Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations.

Khair AM et al.

Oman Medical Journal, 2021

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Ganesan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a
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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."