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: 343C>A; His115Asn
DNA damage tolerance pathway involving DNA polymerase ι and the tumor suppressor p53 regulates DNA replication fork progression.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hampp, Stephanie S; Kiessling, Tina T; Buechle, Kerstin K; Mansilla, Sabrina F SF; Thomale, Jürgen J; Rall, Melanie M; Ahn, Jinwoo J; Pospiech, Helmut H; Gottifredi, Vanesa V; Wiesmüller, Lisa L
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.
Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR