Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.G760S
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GRIN2A

NM_001134407.3:p.G760S

Associated Papers

Assessment of 1863 GRIN2A Variants Contradicts a Role in Tumorigenesis.

Jauss RT et al.

International Journal of Molecular Sciences, 2025

40565021 (PubMed )
Supplement: ijms-26-05558-s001.zip › Supplementary_Table_S1.xlsx › Sheet_1

Landau-Kleffner Syndrome Can Herald the Diagnosis of GRIN2A Gene Mutation.

Ebrahim AK et al.

Case Reports in Pediatrics, 2025

Clinical phenotype and functional influence of GRIN2A variants in epilepsy-aphasia syndrome.

Zhang L et al.

Epilepsia Open, 2024

39474911 (PubMed )
Supplement: EPI4-9-2306-s002.xlsx › Sheet1

N-methyl-d-aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants.

Charron JG et al.

American Journal of Medical Genetics. Part A, 2022

Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Li J et al.

Gut, 2020

31744909 (PubMed )
Supplement: gutjnl-2019-319438supp006.xlsx › _FAP__All_somatic_mutation

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

[Study of GRIN2A mutation in epilepsy-aphasia spectrum disorders].

Qian P et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018

GRIN2A mutations in epilepsy-aphasia spectrum disorders.

Yang X et al.

Brain & Development, 2018

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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."