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: HR: A511V; rs771551351

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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The Dual Prey-Inactivation Strategy of Spiders-In-Depth Venomic Analysis of Cupiennius salei.

Toxins

Kuhn-Nentwig, Lucia L; Langenegger, Nicolas N; Heller, Manfred M; Koua, Dominique D; Nentwig, Wolfgang W

Publication Date: 2019-03-19

Variant appearance in text: HR: A511V

PubMed Link: 30893800

Variant Present in the following documents:

• Main text
• toxins-11-00167.pdf

View BVdb publication page