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; ,
The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.
Bmc Medical Genetics
Christensen, Lise Lotte LL; Madsen, Bo E BE; Wikman, Friedrik P FP; Wiuf, Carsten C; Koed, Karen K; Tjønneland, Anne A; Olsen, Anja A; Syvänen, Ann-Christine AC; Andersen, Claus L CL; Orntoft, Torben F TF
Publication Date: 2008-06-11
Variant appearance in text: MSH2: 329A>G; Lys110Arg