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: 326A>C; Asn109Thr
Microsatellite Instability and Altered Expressions of MLH1 and MSH2 in Gastric Cancer
Asian Pacific Journal Of Cancer Prevention : Apjcp
Haron, Nor Hasyimah NH; Mohamad Hanif, Ezanee Azlina EA; Abdul Manaf, Mohd Rizal MR; Yaakub, Jasmi Ali JA; Harun, Roslan R; Mohamed, Ramelah R; Mohamed Rose, Isa I
Publication Date: 2019-02-26
Variant appearance in text: MSH2: 326A>C; Asn109Thr