Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: TP53: 950del; Gln317fs
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: 950delA; Gln317Argfs
Establishing the origin of metastatic deposits in the setting of multiple primary malignancies: the role of massively parallel sequencing.
Molecular Oncology
De Mattos-Arruda, Leticia L; Bidard, Francois-Clement FC; Won, Helen H HH; Cortes, Javier J; Ng, Charlotte K Y CK; Peg, Vicente V; Nuciforo, Paolo P; Jungbluth, Achim A AA; Weigelt, Britta B; Berger, Michael F MF; Seoane, Joan J; Reis-Filho, Jorge S JS