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: 1064G>A; Arg355Lys
Integrated analysis of mismatch repair system in malignant astrocytomas.
Plos One
Rodríguez-Hernández, Irene I; Garcia, Juan Luis JL; Santos-Briz, Angel A; Hernández-Laín, Aurelio A; González-Valero, Jose María JM; Gómez-Moreta, Juan Antonio JA; Toldos-González, Oscar O; Cruz, Juan Jesús JJ; Martin-Vallejo, Javier J; González-Sarmiento, Rogelio R