Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.G820R
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GRIN2B

NM_000834.5:p.G820R

Associated Papers

Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders.

Shah AA et al.

Genes, 2022

Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.

Kellner S et al.

Elife, 2021

34212862 (PubMed )
Supplement: elife-67555-supp2.xlsx › ClinVar_-_filtered
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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."