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: SI: E179G; rs1309483388

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Transition-state analysis of 2-O-acetyl-ADP-ribose hydrolysis by human macrodomain 1.

Acs Chemical Biology

Hirsch, Brett M BM; Burgos, Emmanuel S ES; Schramm, Vern L VL

Publication Date: 2014-10-17

Variant appearance in text: SI: E179G

PubMed Link: 25051211

Variant Present in the following documents:

• Main text
• cb500485w.pdf

View BVdb publication page