Varaico: Literature-Extracted Genetic Variants

Gene:GRIA1
Variant:p.V640L
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GRIA1

NM_000827.4:p.V640L

Associated Papers

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

Salpietro V et al.

Nature Communications, 2019

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Geisheker MR et al.

Nature Neuroscience, 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."