Varaico: Literature-Extracted Genetic Variants

Gene:GRIN1
Variant:p.D789N
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GRIN1

NM_007327.4:p.D789N

Associated Papers

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

Brock S et al.

Journal of Medical Genetics, 2023

Protein quality control of N-methyl-D-aspartate receptors.

Benske TM et al.

Frontiers in Cellular Neuroscience, 2022

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Fry AE et al.

Brain : a Journal of Neurology, 2018

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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."