From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Cold Spring Harbor Molecular Case Studies
Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C
Publication Date: 2019-08
Variant appearance in text: TP53: 951G>T; Gln317His
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
Molecular Cancer Research : Mcr
Monti, Paola P; Perfumo, Chiara C; Bisio, Alessandra A; Ciribilli, Yari Y; Menichini, Paola P; Russo, Debora D; Umbach, David M DM; Resnick, Michael A MA; Inga, Alberto A; Fronza, Gilberto G