Varaico: Literature-Extracted Genetic Variants

Gene:GPRIN1
Variant:p.P688H
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GPRIN1

NM_052899.3:p.P688H

Associated Papers

Distinct Regulation of Early Trafficking of the NMDA Receptors by the Ligand-Binding Domains of the GluN1 and GluN2A Subunits.

Netolicky J et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025

Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.

Korinek M et al.

Physiological Research, 2024

Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Xu XX et al.

Neuroscience Bulletin, 2018

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

Zehavi Y et al.

European Journal of Medical Genetics, 2017

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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."