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: PSEN1: V191I; rs750585566
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Kidney International Reports
Cogal, Andrea G AG; Arroyo, Jennifer J; Shah, Ronak Jagdeep RJ; Reese, Kalina J KJ; Walton, Brenna N BN; Reynolds, Laura M LM; Kennedy, Gabrielle N GN; Seide, Barbara M BM; Senum, Sarah R SR; Baum, Michelle M; Erickson, Stephen B SB; Jagadeesh, Sujatha S; Soliman, Neveen A NA; Goldfarb, David S DS; Beara-Lasic, Lada L; Edvardsson, Vidar O VO; Palsson, Runolfur R; Milliner, Dawn S DS; Sas, David J DJ; Lieske, John C JC; Harris, Peter C PC; ,