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: ERBB2: E1195G; rs1347979949

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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HER2 somatic mutations are associated with poor survival in HER2-negative breast cancers.

Cancer Science

Wang, Tonghui T; Xu, Ye Y; Sheng, Shuyan S; Yuan, Hua H; Ouyang, Tao T; Li, Jinfeng J; Wang, Tianfeng T; Fan, Zhaoqing Z; Fan, Tie T; Lin, Benyao B; Xie, Yuntao Y

Publication Date: 2017-04

Variant appearance in text: HER2: E1195G

PubMed Link: 28164408

Variant Present in the following documents:

• Main text
• CAS-108-671.pdf

View BVdb publication page