Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GRIN2A: 2829C>G; Tyr943Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.

Frontiers In Pediatrics

Li, Xiao X; Xie, Ling-Ling LL; Han, Wei W; Hong, Si-Qi SQ; Ma, Jian-Nan JN; Wang, Juan J; Jiang, Li L

Publication Date: 2020

Variant appearance in text: GluN2A: 2829C>G

PubMed Link: 33240831

Variant Present in the following documents:

• Main text

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Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.

Bmc Genetics

Kessi, Miriam M; Peng, Jing J; Yang, Lifen L; Xiong, Juan J; Duan, Haolin H; Pang, Nan N; Yin, Fei F

Publication Date: 2018-07-06

Variant appearance in text: GRIN2A: 2829C>G

PubMed Link: 29976148

Variant Present in the following documents:

• Main text
• 12863_2018_Article_628.pdf

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: GRIN2A: 2829C>G

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

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