Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.G484D
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GRIN2B

NM_000834.5:p.G484D

Associated Papers

GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.

Xie C et al.

Orphanet Journal of Rare Diseases, 2025

41146259 (PubMed )
Supplement: 13023_2025_4055_MOESM1_ESM.xlsx › Supplementary_table1

Identification of homologous GluN subunits variants accelerates GRIN variants stratification.

Santos-Gómez A et al.

Frontiers in Cellular Neuroscience, 2022

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.

Martinez-Granero F et al.

Npj Genomic Medicine, 2021

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