Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.T684A
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GRIN2A

NM_001134407.3:p.T684A

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

Three-dimensional missense tolerance ratio analysis.

Perszyk RE et al.

Genome Research, 2021

34301626 (PubMed )
Supplement: supp_gr.275528.121_Supplemental_Dataset_2.xlsx › mutant_variant_Data

GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.

Liu XR et al.

Frontiers in Molecular Neuroscience, 2021

34720871 (PubMed )
Supplement: Table_3.docx

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

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
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