Publications:

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ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics

Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G

Publication Date: 2023-01-03

Variant appearance in text: rs397516434

PubMed Link: 36595552

Variant Present in the following documents:

• pgen.1010563.s004.xlsx, sheet 1

View BVdb publication page

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: TP53: A347V

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 7
• Table3.xlsx, sheet 1

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: TP53: A347V

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research

Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y

Publication Date: 2022-12

Variant appearance in text: rs397516434

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

View BVdb publication page

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The mutational landscape of cancer's vulnerability to ionizing radiation.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Gopal, Priyanka P; Yard, Brian D BD; Petty, Aaron A; Lal, Jessica C JC; Bera, Titas K TK; Hoang, Trung Q TQ; Buhimschi, Alexandru B AB; Abazeed, Mohamed E ME

Publication Date: 2022-10-12

Variant appearance in text: TP53: A347V

PubMed Link: 36222846

Variant Present in the following documents:

• ccr-22-1914_supplementary_data_2_suppds2.xlsx, sheet 1
• ccr-22-1914_supplementary_data_3_suppds3.xlsx, sheet 1

View BVdb publication page

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: p53: 1040C>T

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Landscape of somatic alterations in large-scale solid tumors from an Asian population.

Nature Communications

Wu, Liqun L; Yao, Herui H; Chen, Hui H; Wang, Aodi A; Guo, Kun K; Gou, Wenli W; Yu, Yanfei Y; Li, Xiang X; Yao, Ming M; Yuan, Shaohua S; Pang, Fei F; Hu, Jinwei J; Chen, Lijuan L; Liu, Wenjin W; Yao, Jicheng J; Zhang, Shuirong S; Dong, Xiaowei X; Wang, Weifeng W; Hu, Jing J; Ling, Qi Q; Ding, Songming S; Wei, Yan Y; Li, Qiang Q; Cao, Weichun W; Wang, Shuang S; Di, Yang Y; Feng, Feiling F; Zhao, Gang G; Zhang, Jian J; Huang, Ling L; Xu, Jia J; Yan, Wangjun W; Tong, Zhongsheng Z; Jiang, Da D; Ji, Tao T; Li, Qiao Q; Xu, Ling L; He, Huiying H; Shang, Liang L; Liu, Jin J; Wang, Kefeng K; Wu, Duoguang D; Shen, Jingnan J; Liu, Ye Y; Zhang, Ting T; Liang, Chaojie C; Wang, Yusheng Y; Shang, Yanhong Y; Guo, Jianji J; Liang, Guanbiao G; Xu, Shifeng S; Liu, Junfeng J; Wang, Kai K; Wang, Minghui M

Publication Date: 2022-07-23

Variant appearance in text: TP53: A347V

PubMed Link: 35871175

Variant Present in the following documents:

• 41467_2022_31780_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: TP53: 1040C>T

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Aflatoxin B1 DNA-Adducts in Hepatocellular Carcinoma from a Low Exposure Area.

Nutrients

Gramantieri, Laura L; Gnudi, Federica F; Vasuri, Francesco F; Mandrioli, Daniele D; Fornari, Francesca F; Tovoli, Francesco F; Suzzi, Fabrizia F; Vornoli, Andrea A; D'Errico, Antonia A; Piscaglia, Fabio F; Giovannini, Catia C

Publication Date: 2022-04-15

Variant appearance in text: TP53: 1040C>T

PubMed Link: 35458213

Variant Present in the following documents:

• Main text
• nutrients-14-01652.pdf

View BVdb publication page

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Prognostic Value of Postoperative Circulating Tumor DNA in Patients With Early- and Intermediate-Stage Hepatocellular Carcinoma.

Frontiers In Oncology

Ye, Ke K; Fan, Qinqiao Q; Yuan, Mingming M; Wang, Dong D; Xiao, Liang L; Long, Guo G; Chen, Rongrong R; Fang, Tongdi T; Li, Zengbo Z; Zhou, Ledu L

Publication Date: 2022

Variant appearance in text: TP53: 1040C>T; A347V

PubMed Link: 35311090

Variant Present in the following documents:

• Table_1.xlsx, sheet 3

View BVdb publication page

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Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Bmc Genomics

Chen, Sixian S; Fu, Aizhen A; Lu, Yuan Y; Lu, Wei W; Chen, Yongfeng Y; Hong, Shuiqiang S; Zhou, Suli S; Xiang, Tianmin T; Zhang, Zhenzhen Z; Cai, Yongguang Y

Publication Date: 2022-01-15

Variant appearance in text: TP53: 1040C>T; Ala347Val

PubMed Link: 35031014

Variant Present in the following documents:

• 12864_2021_8289_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Bmc Genomics

Chen, Sixian S; Fu, Aizhen A; Lu, Yuan Y; Lu, Wei W; Chen, Yongfeng Y; Hong, Shuiqiang S; Zhou, Suli S; Xiang, Tianmin T; Zhang, Zhenzhen Z; Cai, Yongguang Y

Publication Date: 2022-01-15

Variant appearance in text: TP53: 1040C>T; Ala347Val

PubMed Link: 35031014

Variant Present in the following documents:

• 12864_2021_8289_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Multicenter phase II trial (SWOG S1609, cohort 51) of ipilimumab and nivolumab in metastatic or unresectable angiosarcoma: a substudy of dual anti-CTLA-4 and anti-PD-1 blockade in rare tumors (DART).

Journal For Immunotherapy Of Cancer

Wagner, Michael J MJ; Othus, Megan M; Patel, Sandip P SP; Ryan, Chris C; Sangal, Ashish A; Powers, Benjamin B; Budd, G Thomas GT; Victor, Adrienne I AI; Hsueh, Chung-Tsen CT; Chugh, Rashmi R; Nair, Suresh S; Leu, Kirsten M KM; Agulnik, Mark M; Sharon, Elad E; Mayerson, Edward E; Plets, Melissa M; Blanke, Charles C; Streicher, Howard H; Chae, Young Kwang YK; Kurzrock, Razelle R

Publication Date: 2021-08

Variant appearance in text: TP53: A347V

PubMed Link: 34380663

Variant Present in the following documents:

• Main text
• jitc-2021-002990.pdf

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: 1040C>T; Ala347Val

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.

Breast Cancer Research And Treatment

Ren, Megan M; Orozco, Anali A; Shao, Kang K; Albanez, Anaseidy A; Ortiz, Jeremy J; Cao, Boyang B; Wang, Lusheng L; Barreda, Lilian L; Alvarez, Christian S CS; Garland, Lisa L; Wu, Dongjing D; Chung, Charles C CC; Wang, Jiahui J; Frone, Megan M; Ralon, Sergio S; Argueta, Victor V; Orozco, Roberto R; Gharzouzi, Eduardo E; Dean, Michael M

Publication Date: 2021-09

Variant appearance in text: rs397516434

PubMed Link: 34196900

Variant Present in the following documents:

• 10549_2021_6305_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Next-Generation Sequencing Identifies Potential Actionable Targets in Paediatric Sarcomas.

Journal Of Personalized Medicine

Juan Ribelles, Antonio A; Gargallo, Pablo P; Berlanga, Pablo P; Segura, Vanessa V; Yáñez, Yania Y; Juan, Bárbara B; Salom, Marta M; Llavador, Margarita M; Font de Mora, Jaime J; Castel, Victoria V; Cañete, Adela A

Publication Date: 2021-04-03

Variant appearance in text: TP53: 1040C>T

PubMed Link: 33916788

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ppp6c haploinsufficiency accelerates UV-induced BRAF(V600E)-initiated melanomagenesis.

Cancer Science

Kanazawa, Kosuke K; Kishimoto, Kazuhiro K; Nomura, Miyuki M; Kurosawa, Koreyuki K; Kato, Hiroyuki H; Inoue, Yui Y; Miura, Koh K; Fukui, Katsuya K; Yamashita, Yoji Y; Sato, Ikuro I; Tsuji, Hiroyuki H; Watanabe, Toshio T; Tanaka, Takuji T; Yasuda, Jun J; Tanuma, Nobuhiro N; Shima, Hiroshi H

Publication Date: 2021-06

Variant appearance in text: TP53: A347V

PubMed Link: 33743547

Variant Present in the following documents:

• Main text
• CAS-112-2233.pdf

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: TP53: 1040C>T; A347V

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Kasumi leukemia cell lines: characterization of tumor genomes with ethnic origin and scales of genomic alterations.

Human Cell

Kasai, Fumio F; Asou, Hiroya H; Ozawa, Midori M; Kobayashi, Kazuhiko K; Kuramitsu, Hiroyuki H; Satoh, Motonobu M; Kohara, Arihiro A; Kaneko, Yasuhiko Y; Kawamura, Machiko M

Publication Date: 2020-07

Variant appearance in text: TP53: 1040C>T; Ala347Val

PubMed Link: 32180206

Variant Present in the following documents:

• 13577_2020_347_MOESM1_ESM.pdf

View BVdb publication page

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Mutational landscape implicates epithelial-mesenchymal transition gene TGF-β2 mutations for uterine carcinosarcoma after adjuvant tamoxifen therapy for breast carcinoma.

International Journal Of Clinical And Experimental Pathology

Shen, Ling L; Hong, Liangli L; Zhou, Songxia S; Zhang, Guohong G; Mai, Ruiqin R

Publication Date: 2019

Variant appearance in text: p53: A347V

PubMed Link: 31933910

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: TP53: 1040C>T; A347V

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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: 1040C>T; Ala347Val

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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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: TP53: A347V

PubMed Link: 29267365

Variant Present in the following documents:

• pone.0189881.s007.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: TP53: 1040C>T; A347V

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53.

Case Reports In Hematology

Bogusz, Agata M AM

Publication Date: 2017

Variant appearance in text: TP53: A347V

PubMed Link: 28487787

Variant Present in the following documents:

• CRIHEM2017-5083463.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TP53: A347V

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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REGene: a literature-based knowledgebase of animal regeneration that bridge tissue regeneration and cancer.

Scientific Reports

Zhao, Min M; Rotgans, Bronwyn B; Wang, Tianfang T; Cummins, S F SF

Publication Date: 2016-03-15

Variant appearance in text: TP53: A347V

PubMed Link: 26975833

Variant Present in the following documents:

• srep23167-s9.xls, sheet 1

View BVdb publication page

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Primary intracranial soft tissue sarcomas in children, adolescents, and young adults: single institution experience and review of the literature.

Journal Of Neuro-Oncology

Maher, Ossama M OM; Khatua, Soumen S; Mukherjee, Devashis D; Olar, Adriana A; Lazar, Alexander A; Luthra, Raja R; Liu, Diane D; Wu, Jimin J; Ketonen, Leena L; Zaky, Wafik W

Publication Date: 2016-03

Variant appearance in text: TP53: 1040C>T

PubMed Link: 26718692

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: p53: 1040C>T

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Nutlin-3a: A Potential Therapeutic Opportunity for TP53 Wild-Type Ovarian Carcinomas.

Plos One

Crane, Erin K EK; Kwan, Suet-Yan SY; Izaguirre, Daisy I DI; Tsang, Yvonne T M YT; Mullany, Lisa K LK; Zu, Zhifei Z; Richards, JoAnne S JS; Gershenson, David M DM; Wong, Kwong-Kwok KK

Publication Date: 2015

Variant appearance in text: TP53: 1040C>T

PubMed Link: 26248031

Variant Present in the following documents:

• Main text
• pone.0135101.pdf

View BVdb publication page

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

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

Publication Date: 2014-10-28

Variant appearance in text: TP53: A347V

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss.

Nature Genetics

Gross, Andrew M AM; Orosco, Ryan K RK; Shen, John P JP; Egloff, Ann Marie AM; Carter, Hannah H; Hofree, Matan M; Choueiri, Michel M; Coffey, Charles S CS; Lippman, Scott M SM; Hayes, D Neil DN; Cohen, Ezra E EE; Grandis, Jennifer R JR; Nguyen, Quyen T QT; Ideker, Trey T

Publication Date: 2014-09

Variant appearance in text: TP53: 1040C>T; A347V

PubMed Link: 25086664

Variant Present in the following documents:

• NIHMS612904-supplement-2.xlsx, sheet 8

View BVdb publication page

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