Varaico: Literature-Extracted Genetic Variants

Gene:GRID2
Variant:p.L656V
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GRID2

NM_001510.4:p.L656V

Associated Papers

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

Delta-type glutamate receptors are ligand-gated ion channels.

Wang H et al.

Nature, 2025

De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation.

Sartorelli J et al.

Cerebellum (london, England), 2024

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia.

Koh K et al.

Human Genome Variation, 2022

Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect.

Grigorenko AP et al.

Cells, 2022

Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.

Ceylan AC et al.

Acta Neurologica Belgica, 2021

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.

Coutelier M et al.

Neurology, 2015

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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."