Varaico: Literature-Extracted Genetic Variants

Gene:GABRB1
Variant:p.N110D
Back to variants list

GABRB1

NM_000812.4:p.N110D

Associated Papers

Proteostasis regulation of GABAA receptors in neuronal function and disease.

Chen X et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025

Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

Janve VS et al.

Annals of Neurology, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."