Varaico: Literature-Extracted Genetic Variants

Gene:GRIN1
Variant:p.S553L
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GRIN1

NM_007327.4:p.S553L

Associated Papers

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

Brock S et al.

Journal of Medical Genetics, 2023

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Fry AE et al.

Brain : a Journal of Neurology, 2018

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.

Ogden KK et al.

Plos Genetics, 2017

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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."