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: ATM: K1109R; rs1204625669

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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WSB1 overcomes oncogene-induced senescence by targeting ATM for degradation.

Cell Research

Kim, Jung Jin JJ; Lee, Seung Baek SB; Yi, Sang-Yeop SY; Han, Sang-Ah SA; Kim, Sun-Hyun SH; Lee, Jong-Min JM; Tong, Seo-Yun SY; Yin, Ping P; Gao, Bowen B; Zhang, Jun J; Lou, Zhenkun Z

Publication Date: 2017-02

Variant appearance in text: ATM: K1109R

PubMed Link: 27958289

Variant Present in the following documents:

• Main text

View BVdb publication page