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: rs150532648

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: WNK1: 3516A>G; I1172M

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Genetic and structural variation in the gastric cancer kinome revealed through targeted deep sequencing.

Cancer Research

Zang, Zhi Jiang ZJ; Ong, Choon Kiat CK; Cutcutache, Ioana I; Yu, Willie W; Zhang, Shen Li SL; Huang, Dachuan D; Ler, Lian Dee LD; Dykema, Karl K; Gan, Anna A; Tao, Jiong J; Lim, Siyu S; Liu, Yujing Y; Futreal, P Andrew PA; Grabsch, Heike H; Furge, Kyle A KA; Goh, Liang Kee LK; Rozen, Steve S; Teh, Bin Tean BT; Tan, Patrick P

Publication Date: 2011-01-01

Variant appearance in text: WNK1: I1172M

PubMed Link: 21097718

Variant Present in the following documents:

• Main text

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