Varaico: Literature-Extracted Genetic Variants

Gene:GRIA2
Variant:p.K530M
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GRIA2

NM_001083619.3:p.K530M

Associated Papers

Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.

Scorrano G et al.

International Journal of Molecular Sciences, 2024

De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy.

Latsko MS et al.

Cold Spring Harbor Molecular Case Studies, 2022

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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."