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: H214Q; rs774518258

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Crystal structure and computational analyses provide insights into the catalytic mechanism of 2,4-diacetylphloroglucinol hydrolase PhlG from Pseudomonas fluorescens.

The Journal Of Biological Chemistry

He, Yong-Xing YX; Huang, Liang L; Xue, Yanyan Y; Fei, Xue X; Teng, Yan-Bin YB; Rubin-Pitel, Sheryl B SB; Zhao, Huimin H; Zhou, Cong-Zhao CZ

Publication Date: 2010-02-12

Variant appearance in text: CCD: H214Q

PubMed Link: 20018877

Variant Present in the following documents:

• Main text

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