Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.G688A
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GRIN2A

NM_001134407.3:p.G688A

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-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

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Chen XS et al.

Scientific Reports, 2017

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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."