Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.A650S
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GRIN2A

NM_001134407.3:p.A650S

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

Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.

Camp CR et al.

Communications Biology, 2023

37723282 (PubMed )
Supplement: 42003_2023_5298_MOESM1_ESM.pdf

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Zhou X et al.

Nature Genetics, 2022

35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs
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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."