Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.R504Q
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GRIN2A

NM_001134407.3:p.R504Q

Associated Papers

CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).

Aspromonte MC et al.

Human Genetics, 2025

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

Aspromonte MC et al.

Human Genetics, 2025

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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."