Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.K670_F671Splc
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GRIN2B

NM_000834.5:p.K670_F671Splc

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

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

Smigiel R et al.

American Journal of Medical Genetics. Part A, 2016

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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."