Varaico: Literature-Extracted Genetic Variants

Gene:GRIA2
Variant:p.P528_K530del3
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GRIA2

NM_001083619.3:p.P528_K530del3

Associated Papers

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

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro V et al.

Nature Communications, 2019

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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."