Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.G532V
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GRIN2A

NM_001134407.3:p.G532V

Associated Papers

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

Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Lee WS et al.

Scientific Reports, 2021

34545149 (PubMed )
Supplement: 41598_2021_98084_MOESM2_ESM.xlsx › Somatic_SNV_Primary_TCGA

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
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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."