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: CP: E50K; rs753577522

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: CP: E50K

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: CP: 148G>A; E50K

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Evaluation of NTF4 as a causative gene for primary open-angle glaucoma.

Molecular Vision

Chen, Li Jia LJ; Ng, Tsz Kin TK; Fan, Alex H AH; Leung, Dexter Y L DY; Zhang, Mingzhi M; Wang, Ningli N; Zheng, Yuqian Y; Liang, Xiao Ying XY; Chiang, Sylvia W Y SW; Tam, Pancy O S PO; Pang, Chi Pui CP

Publication Date: 2012

Variant appearance in text: CP: E50K

PubMed Link: 22815630

Variant Present in the following documents:

• mv-v18-1763.pdf

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Coat protein-mediated resistance to TMV infection of Nicotiana tabacum involves multiple modes of interference by coat protein.

Virology

Bendahmane, Mohammed M; Chen, Iju I; Asurmendi, Sebastian S; Bazzini, Ariel Alejandro AA; Szecsi, Judit J; Beachy, Roger N RN

Publication Date: 2007-09-15

Variant appearance in text: CP: E50K

PubMed Link: 17499327

Variant Present in the following documents:

• Main text

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