Varaico: Literature-Extracted Genetic Variants

Gene:GRIN1
Variant:p.A814D
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GRIN1

NM_007327.4:p.A814D

Associated Papers

Ligand distances as key predictors of pathogenicity and function in NMDA receptors.

Montanucci L et al.

Human Molecular Genetics, 2025

39535073 (PubMed )
Supplement: supplemental_table_s8_final_ddae156.xlsx › Suppl_Table_S8

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.

Santos-Gómez A et al.

International Journal of Molecular Sciences, 2021

Hodgkin-Huxley-Katz Prize Lecture: Genetic and pharmacological control of glutamate receptor channel through a highly conserved gating motif.

Perszyk RE et al.

The Journal of Physiology, 2020

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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."