Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.V931I
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GRIN2B

NM_000834.5:p.V931I

Associated Papers

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

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM11_ESM.xlsx › Supplementary_Data_9
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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."