Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: GRIN2A: P552Q

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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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: P552Q

PubMed Link: 34301626

Variant Present in the following documents:

• supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1

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CXCL10 potentiates immune checkpoint blockade therapy in homologous recombination-deficient tumors.

Theranostics

Shi, Zhiwen Z; Shen, Jianfeng J; Qiu, Junjun J; Zhao, Qingguo Q; Hua, Keqin K; Wang, Hongyan H

Publication Date: 2021

Variant appearance in text: GRIN2A: 1655C>A

PubMed Link: 34158843

Variant Present in the following documents:

• thnov11p7175s3.xlsx, sheet 1

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: GRIN2A: Pro552Gln

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page