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: R532Q; rs753831464
Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.
Scientific Reports
Au, K S KS; Hebert, L L; Hillman, P P; Baker, C C; Brown, M R MR; Kim, D-K DK; Soldano, K K; Garrett, M M; Ashley-Koch, A A; Lee, S S; Gleeson, J J; Hixson, J E JE; Morrison, A C AC; Northrup, H H
Publication Date: 2021-02-11
Variant appearance in text: APOB: R532Q; rs753831464