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: RUNX2: Q431R; rs1196892781

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Cryo-EM structure of arabinosyltransferase EmbB from Mycobacterium smegmatis.

Nature Communications

Tan, Yong Zi YZ; Rodrigues, José J; Keener, James E JE; Zheng, Ruixiang Blake RB; Brunton, Richard R; Kloss, Brian B; Giacometti, Sabrina I SI; Rosário, Ana L AL; Zhang, Lei L; Niederweis, Michael M; Clarke, Oliver B OB; Lowary, Todd L TL; Marty, Michael T MT; Archer, Margarida M; Potter, Clinton S CS; Carragher, Bridget B; Mancia, Filippo F

Publication Date: 2020-07-07

Variant appearance in text: CCD: Q431R

PubMed Link: 32636380

Variant Present in the following documents:

• Main text
• 41467_2020_Article_17202.pdf

View BVdb publication page