Publications:

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: V685A

PubMed Link: 34301626

Variant Present in the following documents:

• supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1

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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: 2054T>C

PubMed Link: 27839871

Variant Present in the following documents:

• Main text

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