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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GRIN2C

Variant:p.R230P

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GRIN2C

NM_000835.6:p.R230P

hg38:chr17:74852322 C>G

Associated Papers

Rescuing tri-heteromeric NMDA receptor function: the potential of pregnenolone-sulfate in loss-of-function GRIN2B variants.

Kellner S et al.

Cellular and Molecular Life Sciences : Cmls, 2024

38795169 (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."