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: ABCA1: V2091I; rs1433385202
Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.
Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.
Journal Of Lipid Research
Singaraja, Roshni R RR; Tietjen, Ian I; Hovingh, G Kees GK; Franchini, Patrick L PL; Radomski, Chris C; Wong, Kenny K; vanHeek, Margaret M; Stylianou, Ioannis M IM; Lin, Linus L; Wang, Liangsu L; Mitnaul, Lyndon L; Hubbard, Brian B; Winther, Michael M; Mattice, Maryanne M; Legendre, Annick A; Sherrington, Robin R; Kastelein, John J JJ; Akinsanya, Karen K; Plump, Andrew A; Hayden, Michael R MR