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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GRIN2D

Variant:p.A675V

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GRIN2D

NM_000836.4:p.A675V

hg38:chr19:48419747 C>T

Associated Papers

Perampanel therapy for intractable GRIN2D-related developmental and epileptic encephalopathy: A case report and literature review.

Li J et al.

Brain & Development, 2023

36567197 (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."