Publications:

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Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)

Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G

Publication Date: 2022-09-01

Variant appearance in text: GluN2A: V506A

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

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GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.

Frontiers In Molecular Neuroscience

Liu, Xiao-Rong XR; Xu, Xing-Xing XX; Lin, Si-Mei SM; Fan, Cui-Ying CY; Ye, Ting-Ting TT; Tang, Bin B; Shi, Yi-Wu YW; Su, Tao T; Li, Bing-Mei BM; Yi, Yong-Hong YH; Luo, Jian-Hong JH; Liao, Wei-Ping WP

Publication Date: 2021

Variant appearance in text: GRIN2A: 1517T>C

PubMed Link: 34720871

Variant Present in the following documents:

• Main text
• fnmol-14-720984.pdf

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Three-dimensional missense tolerance ratio analysis.

Genome Research

Perszyk, Riley E RE; Kristensen, Anders S AS; Lyuboslavsky, Polina P; Traynelis, Stephen F SF

Publication Date: 2021-08

Variant appearance in text: GRIN2A: Val506Ala

PubMed Link: 34301626

Variant Present in the following documents:

• supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1

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The Extracellular Domains of GluN Subunits Play an Essential Role in Processing NMDA Receptors in the ER.

Frontiers In Neuroscience

Horak, Martin M; Barackova, Petra P; Langore, Emily E; Netolicky, Jakub J; Rivas-Ramirez, Paula P; Rehakova, Kristyna K

Publication Date: 2021

Variant appearance in text: GluN2A: V506A

PubMed Link: 33796003

Variant Present in the following documents:

• Main text
• fnins-15-603715.pdf

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Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Neuroscience Bulletin

Xu, Xing-Xing XX; Luo, Jian-Hong JH

Publication Date: 2018-06

Variant appearance in text: GRIN2A: Val506Ala

PubMed Link: 29124671

Variant Present in the following documents:

• Main text

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: GRIN2A: V506A

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

American Journal Of Human Genetics

Swanger, Sharon A SA; Chen, Wenjuan W; Wells, Gordon G; Burger, Pieter B PB; Tankovic, Anel A; Bhattacharya, Subhrajit S; Strong, Katie L KL; Hu, Chun C; Kusumoto, Hirofumi H; Zhang, Jing J; Adams, David R DR; Millichap, John J JJ; Petrovski, Slavé S; Traynelis, Stephen F SF; Yuan, Hongjie H

Publication Date: 2016-12-01

Variant appearance in text: GluN2A: 1517T>C

PubMed Link: 27839871

Variant Present in the following documents:

• Main text

View BVdb publication page

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