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: PCSK9: A685V; rs992933965

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Low-Density Lipoprotein Cholesterol Level cannot be too Low: Considerations from Clinical Trials, Human Genetics, and Biology.

Journal Of Atherosclerosis And Thrombosis

Tada, Hayato H; Usui, Soichiro S; Sakata, Kenji K; Takamura, Masayuki M; Kawashiri, Masa-Aki MA

Publication Date: 2020-06-01

Variant appearance in text: PCSK9: 2054C>T

PubMed Link: 32350167

Variant Present in the following documents:

• Main text

View BVdb publication page