Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.V529delFs
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GRIN2A

NM_001134407.3:p.V529delFs

Associated Papers

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

Lemke JR et al.

Molecular Psychiatry, 2026

41087560 (PubMed )
Supplement: 41380_2025_3279_MOESM2_ESM.xlsx › final

Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.

Camp CR et al.

Communications Biology, 2023

37723282 (PubMed )
Supplement: 42003_2023_5298_MOESM1_ESM.pdf

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

Strehlow V et al.

Brain : a Journal of Neurology, 2019

30544257 (PubMed )
Supplement: awy304_supp.zip › awy304-suppl_data › brain-2018-01122-File012.xlsx › Tabelle1

Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Xu XX et al.

Neuroscience Bulletin, 2018

New genes for focal epilepsies with speech and language disorders.

Turner SJ et al.

Current Neurology and Neuroscience Reports, 2015

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

Lemke JR et al.

Nature Genetics, 2013

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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."