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: FBN1: P698L; rs764827921
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.
Clinical Genetics
Regalado, E S ES; Guo, D C DC; Santos-Cortez, R L P RL; Hostetler, E E; Bensend, T A TA; Pannu, H H; Estrera, A A; Safi, H H; Mitchell, A L AL; Evans, J P JP; Leal, S M SM; Bamshad, M M; Shendure, J J; Nickerson, D A DA; , ; Milewicz, D M DM