Varaico: Literature-Extracted Genetic Variants

Gene:GPRIN1
Variant:p.E653K
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GPRIN1

NM_052899.3:p.E653K

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

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.

Brock S et al.

Journal of Medical Genetics, 2023

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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."