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: EGF: D92N; rs1369053303
Secreted Frizzled-related protein 2 is a procollagen C proteinase enhancer with a role in fibrosis associated with myocardial infarction.
Nature Cell Biology
Kobayashi, Koichi K; Luo, Min M; Zhang, Yue Y; Wilkes, David C DC; Ge, Gaoxiang G; Grieskamp, Thomas T; Yamada, Chikaomi C; Liu, Ting-Chun TC; Huang, Guorui G; Basson, Craig T CT; Kispert, Andreas A; Greenspan, Daniel S DS; Sato, Thomas N TN