Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.S34fs
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GRIN2B

NM_000834.5:p.S34fs

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

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

Systematic reconstruction of autism biology from massive genetic mutation profiles.

Luo W et al.

Science Advances, 2018

29651456 (PubMed )
Supplement: 1701799_TableS5.xlsx › LGD

NMDA receptor subunit mutations in neurodevelopmental disorders.

Burnashev N et al.

Current Opinion in Pharmacology, 2015

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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."