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: TTN: V15A; rs1471462382

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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An Artificial Heme Enzyme for Cyclopropanation Reactions.

Angewandte Chemie (International Ed. In English)

Villarino, Lara L; Splan, Kathryn E KE; Reddem, Eswar E; Alonso-Cotchico, Lur L; Gutiérrez de Souza, Cora C; Lledós, Agustí A; Maréchal, Jean-Didier JD; Thunnissen, Andy-Mark W H AWH; Roelfes, Gerard G

Publication Date: 2018-06-25

Variant appearance in text: TTN: V15A

PubMed Link: 29719099

Variant Present in the following documents:

• Main text
• ANIE-57-7785-s001.pdf
• ANIE-57-7785.pdf

View BVdb publication page