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: DNAH11: L3715P; rs1179697599

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.

Nature Communications

Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL

Publication Date: 2019-04-16

Variant appearance in text: DNAH11: L3715P

PubMed Link: 30992440

Variant Present in the following documents:

• 41467_2019_9762_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page