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: WARS2: E208K; rs137890886

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Correlation between TGF-β1 expression and proteomic profiling induced by severe acute respiratory syndrome coronavirus papain-like protease.

Proteomics

Li, Shih-Wen SW; Yang, Tsuey-Ching TC; Wan, Lei L; Lin, Ying-Ju YJ; Tsai, Fuu-Jen FJ; Lai, Chien-Chen CC; Lin, Cheng-Wen CW

Publication Date: 2012-11

Variant appearance in text: WARS2: E208K

PubMed Link: 22936401

Variant Present in the following documents:

• PMIC-12-3193.pdf

View BVdb publication page