Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.S632F
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GRIN2A

NM_001134407.3:p.S632F

Associated Papers

De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.

Xu Y et al.

Cellular and Molecular Life Sciences : Cmls, 2024

Diagnostic yield of genetic testing in 324 infants with hypotonia.

Sharma S et al.

Clinical Genetics, 2021

A single GluN2 subunit residue controls NMDA receptor channel properties via intersubunit interaction.

Siegler Retchless B et al.

Nature Neuroscience, 2012

22246434 (PubMed )
Supplement: NIHMS344266-supplement-1.pdf
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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."