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; ,
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
European Journal Of Human Genetics : Ejhg
Elsayed, Fadwa A FA; Kets, C Marleen CM; Ruano, Dina D; van den Akker, Brendy B; Mensenkamp, Arjen R AR; Schrumpf, Melanie M; Nielsen, Maartje M; Wijnen, Juul T JT; Tops, Carli M CM; Ligtenberg, Marjolijn J MJ; Vasen, Hans F A HF; Hes, Frederik J FJ; Morreau, Hans H; van Wezel, Tom T