Publications:

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: 1038G>A; Glu346=

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

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Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.

Cancer Research

Leroy, Bernard B; Ballinger, Mandy L ML; Baran-Marszak, Fanny F; Bond, Gareth L GL; Braithwaite, Antony A; Concin, Nicole N; Donehower, Lawrence A LA; El-Deiry, Wafik S WS; Fenaux, Pierre P; Gaidano, Gianluca G; Langerød, Anita A; Hellstrom-Lindberg, Eva E; Iggo, Richard R; Lehmann-Che, Jacqueline J; Mai, Phuong L PL; Malkin, David D; Moll, Ute M UM; Myers, Jeffrey N JN; Nichols, Kim E KE; Pospisilova, Sarka S; Ashton-Prolla, Patricia P; Rossi, Davide D; Savage, Sharon A SA; Strong, Louise C LC; Tonin, Patricia N PN; Zeillinger, Robert R; Zenz, Thorsten T; Fraumeni, Joseph F JF; Taschner, Peter E M PE; Hainaut, Pierre P; Soussi, Thierry T

Publication Date: 2017-03-15

Variant appearance in text: TP53: 1038G>A

PubMed Link: 28254861

Variant Present in the following documents:

• Main text

View BVdb publication page