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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GRIA2

Variant:p.A643T

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GRIA2

NM_001083619.3:p.A643T

hg38:chr4:157341346 G>A

Associated Papers

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

Salpietro V et al.

Nature Communications, 2019

31300657 (PubMed )

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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."