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: PRRT2: N335S; rs774242702

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Macrophage capping protein CapG is a putative oncogene involved in migration and invasiveness in ovarian carcinoma.

Biomed Research International

Glaser, J J; Neumann, M H D MH; Mei, Qi Q; Betz, B B; Seier, N N; Beyer, I I; Fehm, T T; Neubauer, H H; Niederacher, D D; Fleisch, M C MC

Publication Date: 2014

Variant appearance in text: PKC: 1004A>G

PubMed Link: 24804218

Variant Present in the following documents:

• Main text

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