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: L812A

PubMed Link: 34301626

Variant Present in the following documents:

• supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1

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Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.

Nature Communications

Yuan, Hongjie H; Hansen, Kasper B KB; Zhang, Jing J; Pierson, Tyler Mark TM; Markello, Thomas C TC; Fajardo, Karin V Fuentes KV; Holloman, Conisha M CM; Golas, Gretchen G; Adams, David R DR; Boerkoel, Cornelius F CF; Gahl, William A WA; Traynelis, Stephen F SF

Publication Date: 2014

Variant appearance in text: GluN2A: L812A

PubMed Link: 24504326

Variant Present in the following documents:

• Main text
• nihms555955.pdf

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