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: APOB: G753A; rs148502464
Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis.
Molecular Genetics & Genomic Medicine
Modena, Martina M; Castiglione, Vincenzo V; Aretini, Paolo P; Mazzanti, Chiara M CM; Chiti, Enrica E; Giannoni, Alberto A; Emdin, Michele M; Di Paolo, Marco M