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: KDR: R664C; rs755067067
Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.
International Journal Of Molecular Sciences
Scimone, Concetta C; Granata, Francesca F; Longo, Marcello M; Mormina, Enricomaria E; Turiaco, Cristina C; Caragliano, Antonio A AA; Donato, Luigi L; Sidoti, Antonina A; D'Angelo, Rosalia R
Publication Date: 2020-06-17
Variant appearance in text: KDR: 1990C>T; Arg664Cys; rs755067067