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: SI: Y556C; rs1368010717
Fluconazole-Resistant Candida glabrata Bloodstream Isolates, South Korea, 2008-2018.
Emerging Infectious Diseases
Won, Eun Jeong EJ; Choi, Min Ji MJ; Kim, Mi-Na MN; Yong, Dongeun D; Lee, Wee Gyo WG; Uh, Young Y; Kim, Taek Soo TS; Byeon, Seung Ah SA; Lee, Seung Yeob SY; Kim, Soo Hyun SH; Shin, Jong Hee JH