Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.K1091T
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GRIN2B

NM_000834.5:p.K1091T

Associated Papers

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

Xie C et al.

Orphanet Journal of Rare Diseases, 2025

GnomAD Missense Variants of Uncertain Significance: Implications for p53 Stability and Phosphorylation.

García-Ayala FD et al.

International Journal of Molecular Sciences, 2025

Whole-Genome Sequencing Reveals a Novel Pathogenic GRIN2B Variant in a Patient with Neurodevelopmental Disorder and an inv(6)(p24p11.2)pat.

Córdova-Fletes C et al.

Cytogenetic and Genome Research, 2024

Functional Evaluation of a Novel GRIN2B Missense Variant Associated with Epilepsy and Intellectual Disability.

Wang X et al.

Neuroscience, 2023

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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."