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: LPL: T45S; rs897164454
APOC1 T45S polymorphism is associated with reduced obesity indices and lower plasma concentrations of leptin and apolipoprotein C-I in aboriginal Canadians.
Journal Of Lipid Research
Lahiry, Piya P; Cao, Henian H; Ban, Matthew R MR; Pollex, Rebecca L RL; Mamakeesick, Mary M; Zinman, Bernard B; Harris, Stewart B SB; Hanley, Anthony J G AJ; Huff, Murray W MW; Connelly, Philip W PW; Hegele, Robert A RA