Publications:

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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: 1083del; Ser362fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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pRB immunostaining in the differential diagnosis between pleomorphic xanthoastrocytoma and glioblastoma with giant cells.

Histopathology

Barresi, Valeria V; Simbolo, Michele M; Ciaparrone, Chiara C; Pedron, Serena S; Mafficini, Andrea A; Scarpa, Aldo A

Publication Date: 2022-11

Variant appearance in text: TP53: 1083del

PubMed Link: 35945679

Variant Present in the following documents:

• HIS-81-661-s001.xlsx, sheet 1

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: TP53: 1083del; S362Afs*8

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology

Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K

Publication Date: 2019

Variant appearance in text: TP53: 1083delG

PubMed Link: 30886832

Variant Present in the following documents:

• Table_2.xls, sheet 1
• Table_2.xls, sheet 2

View BVdb publication page

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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: 1083delG; Ser362Alafs

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

View BVdb publication page

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De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome.

American Journal Of Human Genetics

Toki, Tsutomu T; Yoshida, Kenichi K; Wang, RuNan R; Nakamura, Sou S; Maekawa, Takanobu T; Goi, Kumiko K; Katoh, Megumi C MC; Mizuno, Seiya S; Sugiyama, Fumihiro F; Kanezaki, Rika R; Uechi, Tamayo T; Nakajima, Yukari Y; Sato, Yusuke Y; Okuno, Yusuke Y; Sato-Otsubo, Aiko A; Shiozawa, Yusuke Y; Kataoka, Keisuke K; Shiraishi, Yuichi Y; Sanada, Masashi M; Chiba, Kenichi K; Tanaka, Hiroko H; Terui, Kiminori K; Sato, Tomohiko T; Kamio, Takuya T; Sakaguchi, Hirotoshi H; Ohga, Shouichi S; Kuramitsu, Madoka M; Hamaguchi, Isao I; Ohara, Akira A; Kanno, Hitoshi H; Miyano, Satoru S; Kojima, Seiji S; Ishiguro, Akira A; Sugita, Kanji K; Kenmochi, Naoya N; Takahashi, Satoru S; Eto, Koji K; Ogawa, Seishi S; Ito, Etsuro E

Publication Date: 2018-09-06

Variant appearance in text: TP53: 1083delG

PubMed Link: 30146126

Variant Present in the following documents:

• Main text

View BVdb publication page

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Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia.

Scientific Reports

Orsini, Paola P; Minervini, Crescenzio F CF; Cumbo, Cosimo C; Anelli, Luisa L; Zagaria, Antonella A; Minervini, Angela A; Coccaro, Nicoletta N; Tota, Giuseppina G; Casieri, Paola P; Impera, Luciana L; Parciante, Elisa E; Brunetti, Claudia C; Giordano, Annamaria A; Specchia, Giorgina G; Albano, Francesco F

Publication Date: 2018-08-07

Variant appearance in text: TP53: 1083delG

PubMed Link: 30087429

Variant Present in the following documents:

• 41598_2018_30330_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: TP53: 1078delG; Ser362fs

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s5.xlsx, sheet 8
• bty518_supplementary_data_s2.xlsx, sheet 8
• bty518_supplementary_data_s10.xlsx, sheet 8

View BVdb publication page

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Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Oncotarget

Kong, Say Li SL; Liu, Xingliang X; Suhaimi, Nur-Afidah Mohamed NM; Koh, Kenneth Jia Hao KJH; Hu, Min M; Lee, Daniel Yoke San DYS; Cima, Igor I; Phyo, Wai Min WM; Lee, Esther Xing Wei EXW; Tai, Joyce A JA; Foong, Yu Miin YM; Vo, Jess Honganh JH; Koh, Poh Koon PK; Zhang, Tong T; Ying, Jackie Y JY; Lim, Bing B; Tan, Min-Han MH; Hillmer, Axel M AM

Publication Date: 2017-09-15

Variant appearance in text: TP53: 1083delG

PubMed Link: 28978093

Variant Present in the following documents:

• oncotarget-08-68026-s002.xlsx, sheet 5

View BVdb publication page

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Molecular basis of targeted therapy in T/NK-cell lymphoma/leukemia: A comprehensive genomic and immunohistochemical analysis of a panel of 33 cell lines.

Plos One

Mondejar, Rufino R; Pérez, Cristina C; Onaindia, Arantza A; Martinez, Nerea N; González-Rincón, Julia J; Pisonero, Helena H; Vaqué, Jose Pedro JP; Cereceda, Laura L; Santibañez, Miguel M; Sánchez-Beato, Margarita M; Piris, Miguel Angel MA

Publication Date: 2017

Variant appearance in text: TP53: 1083delG; Ser362AlafsX8

PubMed Link: 28505169

Variant Present in the following documents:

• pone.0177524.s005.xlsx, sheet 1

View BVdb publication page

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