Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2D
Variant:p.S471N
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GRIN2D

NM_000836.4:p.S471N

Associated Papers

NMDA Receptors in Neurodevelopmental Disorders: Pathophysiology and Disease Models.

Tumdam R et al.

International Journal of Molecular Sciences, 2024

Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.

Santos-Gómez A et al.

Human Molecular Genetics, 2021

Rare loss of function mutations in N-methyl-D-aspartate glutamate receptors and their contributions to schizophrenia susceptibility.

Yu Y et al.

Translational Psychiatry, 2018

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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."