Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.A548P
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GRIN2A

NM_001134407.3:p.A548P

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

Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.

Myers SJ et al.

Human Molecular Genetics, 2023

Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.

Xie L et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Positive allosteric modulators that target NMDA receptors rectify loss-of-function GRIN variants associated with neurological and neuropsychiatric disorders.

Tang W et al.

Neuropharmacology, 2020

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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