Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.E413K
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GRIN2B

NM_000834.5:p.E413K

Associated Papers

A GluN2B disease-associated variant promotes the degradation of NMDA receptors via autophagy.

Benske TM et al.

The Journal of Biological Chemistry, 2026

41525846 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_S1

Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.

Hudac CM et al.

Journal of Autism and Developmental Disorders, 2024

37031308 (PubMed )
Supplement: 10803_2023_5897_MOESM2_ESM.xlsx › SITable2

Analysis of trio test in neurodevelopmental disorders.

Kim SH et al.

Frontiers in Pediatrics, 2022

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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."