Varaico: Literature-Extracted Genetic Variants

Gene:GRIN1
Variant:p.E811A
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GRIN1

NM_007327.4:p.E811A

Associated Papers

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

Korinek M et al.

Physiological Research, 2024

Pregnane-based steroids are novel positive NMDA receptor modulators that may compensate for the effect of loss-of-function disease-associated GRIN mutations.

Kysilov B et al.

British Journal of Pharmacology, 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."