Varaico: Literature-Extracted Genetic Variants

Gene:GABRB3
Variant:p.P253S
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GABRB3

NM_000814.6:p.P253S

Associated Papers

The genetic and phenotypic spectrum of GABRB1-related disorders.

Millevert C et al.

Brain : a Journal of Neurology, 2025

Understanding paralogous epilepsy-associated GABAA receptor variants: Clinical implications, mechanisms, and potential pitfalls.

Kan ASH et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

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

GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.

Yang Y et al.

Journal of Neurology, 2022

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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."