Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2022-03
Variant appearance in text: MSH2: 157G>A; Ala53Thr
Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape.
Bmc Medical Genomics
Fojo, Tito T; Huff, Lyn L; Litman, Thomas T; Im, Kate K; Edgerly, Maureen M; Del Rivero, Jaydira J; Pittaluga, Stefania S; Merino, Maria M; Bates, Susan E SE; Dean, Michael M