Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2D
Variant:p.L670F
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GRIN2D

NM_000836.4:p.L670F

Associated Papers

GRIN2D-Related Developmental and Epileptic Encephalopathy Associated With Polymorphic Seizures Including Epileptic Spasms.

Obregón Gómez LR et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2026

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Halfmeyer I et al.

Genes, 2022

36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs

Identification of a novel GRIN2D variant in a neonate with intractable epileptic encephalopathy-a case report.

Jiao J et al.

Bmc Pediatrics, 2021

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.

XiangWei W et al.

Brain : a Journal of Neurology, 2019

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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."