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: S256T; rs776708490

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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The role of distant mutations and allosteric regulation on LovD active site dynamics.

Nature Chemical Biology

Jiménez-Osés, Gonzalo G; Osuna, Sílvia S; Gao, Xue X; Sawaya, Michael R MR; Gilson, Lynne L; Collier, Steven J SJ; Huisman, Gjalt W GW; Yeates, Todd O TO; Tang, Yi Y; Houk, K N KN

Publication Date: 2014-06

Variant appearance in text: CCD: S256T

PubMed Link: 24727900

Variant Present in the following documents:

• Main text

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