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; ,
Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.
Cancer Biology & Therapy
Arora, Sanjeevani S; Huwe, Peter J PJ; Sikder, Rahmat R; Shah, Manali M; Browne, Amanda J AJ; Lesh, Randy R; Nicolas, Emmanuelle E; Deshpande, Sanat S; Hall, Michael J MJ; Dunbrack, Roland L RL; Golemis, Erica A EA
Publication Date: 2017-07-03
Variant appearance in text: MSH2: 163C>G; Arg55Gly
Poly (ADP-Ribose) Polymerase Inhibitor Hypersensitivity in Aggressive Myeloproliferative Neoplasms.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Pratz, Keith W KW; Koh, Brian D BD; Patel, Anand G AG; Flatten, Karen S KS; Poh, Weijie W; Herman, James G JG; Dilley, Robert R; Harrell, Maria I MI; Smith, B Douglas BD; Karp, Judith E JE; Swisher, Elizabeth M EM; McDevitt, Michael A MA; Kaufmann, Scott H SH