Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.E839*
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GRIN2B

NM_000834.5:p.E839*

Associated Papers

Mice carrying a GluN2B protein-truncating variant have altered NMDA receptor subunit composition and their behavior recapitulates patient phenotypes.

Fili K et al.

Cellular and Molecular Life Sciences : Cmls, 2026

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

Korinek M et al.

Physiological Research, 2024

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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."