Publications:

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Somatic alterations of TP53 and MDM2 associated with response to enfortumab vedotin in patients with advanced urothelial cancer.

Frontiers In Oncology

Jindal, Tanya T; Zhu, Xiaolin X; Bose, Rohit R; Kumar, Vipul V; Maldonado, Edward E; Deshmukh, Prianka P; Shipp, Chase C; Feng, Stephanie S; Johnson, Michelle S MS; Angelidakis, Austin A; Kwon, Daniel D; Borno, Hala T HT; de Kouchkovsky, Ivan I; Desai, Arpita A; Aggarwal, Rahul R; Fong, Lawrence L; Small, Eric J EJ; Wong, Anthony A; Porten, Sima S; Chou, Jonathan J; Friedlander, Terence T; Koshkin, Vadim S VS

Publication Date: 2023

Variant appearance in text: TP53: A276G

PubMed Link: 37091148

Variant Present in the following documents:

• Main text
• fonc-13-1161089.pdf

View BVdb publication page

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Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.

Iscience

Tam, Benjamin B; Qin, Zixin Z; Zhao, Bojin B; Wang, San Ming SM; Lei, Chon Lok CL

Publication Date: 2023-03-17

Variant appearance in text: TP53: 827C>G; A276G

PubMed Link: 36879825

Variant Present in the following documents:

• mmc4.xlsx, sheet 1
• mmc2.xlsx, sheet 1
• mmc3.xlsx, sheet 1

View BVdb publication page

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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: 827C>G; Ala276Gly

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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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: A276G

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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Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Frontiers In Oncology

Sun, Daqiang D; Xu, Meilin M; Pan, Chaohu C; Tang, Hongzhen H; Wang, Peng P; Wu, Dongfang D; Luo, Haitao H

Publication Date: 2022

Variant appearance in text: TP53: 827C>G; Ala276Gly

PubMed Link: 36425562

Variant Present in the following documents:

• Table_4.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: A276G

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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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: TP53: 827C>G; A276G

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.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: 827C>G

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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HPV16-E6/E7 Oncogene Mutation and p53 Expression among Indonesian Women with Cervical Cancer.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Mahendra, I Nyoman Bayu INB; Prayudi, Pande Kadek Aditya PKA; Dwija, Ida Bagus Nyoman Putra IBNP; Suwiyoga, Ketut K

Publication Date: 2022-08-01

Variant appearance in text: p53: A276G

PubMed Link: 36037124

Variant Present in the following documents:

• Main text
• APJCP-23-2705.pdf

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: A276G

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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RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.

Frontiers In Genetics

Long, Qihan Q; Yuan, Yangyang Y; Li, Miaoxin M

Publication Date: 2022

Variant appearance in text: TP53: A276G

PubMed Link: 35846154

Variant Present in the following documents:

• Main text
• fgene-13-865313.pdf

View BVdb publication page

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Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology

Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J

Publication Date: 2022

Variant appearance in text: TP53: 827C>G; A276G

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: TP53: A276G

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Proteogenomic characterization of 2002 human cancers reveals pan-cancer molecular subtypes and associated pathways.

Nature Communications

Zhang, Yiqun Y; Chen, Fengju F; Chandrashekar, Darshan S DS; Varambally, Sooryanarayana S; Creighton, Chad J CJ

Publication Date: 2022-05-13

Variant appearance in text: p53: A276G

PubMed Link: 35562349

Variant Present in the following documents:

• 41467_2022_30342_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Recurrent transcriptional responses in AML and MDS patients treated with decitabine.

Experimental Hematology

Upadhyay, Pawan P; Beales, Jeremy J; Shah, Nakul M NM; Gruszczynska, Agata A; Miller, Christopher A CA; Petti, Allegra A AA; Ramakrishnan, Sai Mukund SM; Link, Daniel C DC; Ley, Timothy J TJ; Welch, John S JS

Publication Date: 2022-07

Variant appearance in text: TP53: A276G

PubMed Link: 35429619

Variant Present in the following documents:

• NIHMS1838743-supplement-MMC1.pdf

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: TP53: 827C>G; Ala276Gly

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: TP53: 827C>G; A276G

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: TP53: 827C>G; A276G

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel.

Pathology Oncology Research : Por

Kobayashi, Yusuke Y; Kitazono, Ikumi I; Akahane, Toshiaki T; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Nohara, Sachio S; Sakamoto, Ippei I; Yokoyama, Seiya S; Tabata, Kazuhiro K; Kobayashi, Hiroaki H; Tanimoto, Akihide A

Publication Date: 2021

Variant appearance in text: TP53: Ala276Gly

PubMed Link: 35002543

Variant Present in the following documents:

• Main text
• pore-27-1610013.pdf
• Table4.xlsx, sheet 1

View BVdb publication page

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Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.

Pathology Oncology Research : Por

Čerina, Dora D; Matković, Višnja V; Katić, Kristina K; Lovasić, Ingrid Belac IB; Šeparović, Robert R; Canjko, Ivana I; Jakšić, Blanka B; Fröbe, Ana A; Pleština, Stjepko S; Bajić, Žarko Ž; Vrdoljak, Eduard E

Publication Date: 2021

Variant appearance in text: TP53: A276G

PubMed Link: 34646088

Variant Present in the following documents:

• DataSheet4.xlsx, sheet 1
• DataSheet3.xlsx, sheet 1

View BVdb publication page

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High Incidence of C797S Mutation in Patients With Long Treatment History of EGFR Tyrosine Kinase Inhibitors Including Osimertinib.

Jto Clinical And Research Reports

Osoegawa, Atsushi A; Yamaguchi, Masafumi M; Nakamura, Tomomi T; Morinaga, Ryotaro R; Tanaka, Kentaro K; Kashiwabara, Kosuke K; Miura, Takashi T; Suetsugu, Takayuki T; Harada, Taishi T; Asoh, Tatsuma T; Taguchi, Kenichi K; Nabeshima, Kazuki K; Kishimoto, Junji J; Sakai, Kazuko K; Nishio, Kazuto K; Sugio, Kenji K

Publication Date: 2021-07

Variant appearance in text: rs786202082

PubMed Link: 34590037

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Radiation-induced gliomas represent H3-/IDH-wild type pediatric gliomas with recurrent PDGFRA amplification and loss of CDKN2A/B.

Nature Communications

Deng, Maximilian Y MY; Sturm, Dominik D; Pfaff, Elke E; Sill, Martin M; Stichel, Damian D; Balasubramanian, Gnana Prakash GP; Tippelt, Stephan S; Kramm, Christof C; Donson, Andrew M AM; Green, Adam L AL; Jones, Chris C; Schittenhelm, Jens J; Ebinger, Martin M; Schuhmann, Martin U MU; Jones, Barbara C BC; van Tilburg, Cornelis M CM; Wittmann, Andrea A; Golanov, Andrey A; Ryzhova, Marina M; Ecker, Jonas J; Milde, Till T; Witt, Olaf O; Sahm, Felix F; Reuss, David D; Sumerauer, David D; Zamecnik, Josef J; Korshunov, Andrey A; von Deimling, Andreas A; Pfister, Stefan M SM; Jones, David T W DTW

Publication Date: 2021-09-20

Variant appearance in text: TP53: A276G

PubMed Link: 34545083

Variant Present in the following documents:

• 41467_2021_25708_MOESM1_ESM.pdf

View BVdb publication page

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Clinicopathologic and Molecular Characteristics of Gastrointestinal MiNENs.

Frontiers In Oncology

Yeo, Min-Kyung MK; Yoon, Nara N; Bae, Go Eun GE

Publication Date: 2021

Variant appearance in text: TP53: 827C>G

PubMed Link: 34422662

Variant Present in the following documents:

• Main text

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: 827C>G; A276G

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

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Comparison of Genetic Profiling between Primary Tumor and Circulating Tumor Cells Captured by Microfluidics in Epithelial Ovarian Cancer: Tumor Heterogeneity or Allele Dropout?

Diagnostics (Basel, Switzerland)

Chang, Ting-Yu TY; Chen, Sheng-Wen SW; Lin, Wen-Hsiang WH; Huang, Chung-Er CE; Evans, Mark I MI; Chung, I-Fang IF; Wu, Janne-Wha JW; Ma, Gwo-Chin GC; Chen, Ming M

Publication Date: 2021-06-16

Variant appearance in text: TP53: 827C>G; A276G; rs786202082

PubMed Link: 34208639

Variant Present in the following documents:

• Main text
• diagnostics-11-01102.pdf

View BVdb publication page

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Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemia.

Nature Communications

Ochi, Yotaro Y; Yoshida, Kenichi K; Huang, Ying-Jung YJ; Kuo, Ming-Chung MC; Nannya, Yasuhito Y; Sasaki, Ko K; Mitani, Kinuko K; Hosoya, Noriko N; Hiramoto, Nobuhiro N; Ishikawa, Takayuki T; Branford, Susan S; Shanmuganathan, Naranie N; Ohyashiki, Kazuma K; Takahashi, Naoto N; Takaku, Tomoiku T; Tsuchiya, Shun S; Kanemura, Nobuhiro N; Nakamura, Nobuhiko N; Ueda, Yasunori Y; Yoshihara, Satoshi S; Bera, Rabindranath R; Shiozawa, Yusuke Y; Zhao, Lanying L; Takeda, June J; Watatani, Yosaku Y; Okuda, Rurika R; Makishima, Hideki H; Shiraishi, Yuichi Y; Chiba, Kenichi K; Tanaka, Hiroko H; Sanada, Masashi M; Takaori-Kondo, Akifumi A; Miyano, Satoru S; Ogawa, Seishi S; Shih, Lee-Yung LY

Publication Date: 2021-05-14

Variant appearance in text: TP53: A276G

PubMed Link: 33990592

Variant Present in the following documents:

• 41467_2021_23097_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: TP53: A276G

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: TP53: 827C>G; A276G

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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: 827C>G; A276G

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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Combining Ramachandran plot and molecular dynamics simulation for structural-based variant classification: Using TP53 variants as model.

Computational And Structural Biotechnology Journal

Tam, Benjamin B; Sinha, Siddharth S; Wang, San Ming SM

Publication Date: 2020

Variant appearance in text: TP53: 827C>G; A276G

PubMed Link: 33363700

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: TP53: A276G

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.xlsx, sheet 1

View BVdb publication page

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: TP53: 827C>G; A276G

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.

Ebiomedicine

Scholl, Suzy M SM; Beal, Jonas J; de Koning, Leanne L; Girard, Elodie E; Popovic, Marina M; de la Rochefordière, Anne A; Lecuru, Fabrice F; Fourchotte, Virginie V; Ngo, Charlotte C; Floquet, Anne A; Berns, Els Mjj EM; Kenter, Gemma G; Gestraud, Pierre P; von der Leyen, Heiko H; Lecerf, Charlotte C; Puard, Vincent V; Roman, Sergio Roman SR; Latouche, Aurelien A; Kereszt, Attila A; Balint, Balazs B; Rouzier, Roman R; Kamal, Maud M

Publication Date: 2020-11

Variant appearance in text: TP53: 827C>G; S276C

PubMed Link: 33096476

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: TP53: A276G

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: TP53: A276G

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: rs786202082

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

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: 827C>G; A276G

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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SMARCA4-Deficient Thoracic Sarcomatoid Tumors Represent Primarily Smoking-Related Undifferentiated Carcinomas Rather Than Primary Thoracic Sarcomas.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Rekhtman, Natasha N; Montecalvo, Joseph J; Chang, Jason C JC; Alex, Deepu D; Ptashkin, Ryan N RN; Ai, Ni N; Sauter, Jennifer L JL; Kezlarian, Brie B; Jungbluth, Achim A; Desmeules, Patrice P; Beras, Amanda A; Bishop, Justin A JA; Plodkowski, Andrew J AJ; Gounder, Mrinal M MM; Schoenfeld, Adam J AJ; Namakydoust, Azadeh A; Li, Bob T BT; Rudin, Charles M CM; Riely, Gregory J GJ; Jones, David R DR; Ladanyi, Marc M; Travis, William D WD

Publication Date: 2020-02

Variant appearance in text: TP53: 827C>G; A276G

PubMed Link: 31751681

Variant Present in the following documents:

• NIHMS1547998-supplement-1.xlsx, sheet 7

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: TP53: 827C>G; A276G

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.

Clinical Epigenetics

Pienkowska, Malgorzata M; Choufani, Sanaa S; Turinsky, Andrei L AL; Guha, Tanya T; Merino, Diana M DM; Novokmet, Ana A; Brudno, Michael M; Weksberg, Rosanna R; Shlien, Adam A; Hawkins, Cynthia C; Bouffet, Eric E; Tabori, Uri U; Gilbertson, Richard J RJ; Finlay, Jonathan L JL; Jabado, Nada N; Thomas, Christian C; Sill, Martin M; Capper, David D; Hasselblatt, Martin M; Malkin, David D

Publication Date: 2019-08-13

Variant appearance in text: TP53: 827C>G

PubMed Link: 31409384

Variant Present in the following documents:

• 13148_2019_708_MOESM1_ESM.xlsx, sheet 1

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: TP53: 827C>G; Ala276Gly

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: TP53: A276G

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.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: 827C>G; Ala276Gly

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

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Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer.

Scientific Reports

Kaur, Pushpinder P; Porras, Tania B TB; Ring, Alexander A; Carpten, John D JD; Lang, Julie E JE

Publication Date: 2019-02-06

Variant appearance in text: TP53: A276G

PubMed Link: 30728399

Variant Present in the following documents:

• 41598_2018_37574_MOESM1_ESM.pdf

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: TP53: 827C>G; A276G

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

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Personalized Medicine in the Oncology Clinic: Implementation and Outcomes of the Johns Hopkins Molecular Tumor Board.

Jco Precision Oncology

Dalton, W Brian WB; Forde, Patrick M PM; Kang, Hyunseok H; Connolly, Roisin M RM; Stearns, Vered V; Gocke, Christopher D CD; Eshleman, James R JR; Axilbund, Jennifer J; Petry, Dana D; Geoghegan, Cindy C; Wolff, Antonio C AC; Loeb, David M DM; Pratilas, Christine A CA; Meyer, Christian F CF; Christenson, Eric S ES; Slater, Shannon A SA; Ensminger, Jennifer J; Parsons, Heather A HA; Park, Ben H BH; Lauring, Josh J

Publication Date: 2017

Variant appearance in text: TP53: A276G

PubMed Link: 30003184

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd

Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D

Publication Date: 2018-09

Variant appearance in text: TP53: A276G

PubMed Link: 29936259

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: TP53: 827C>G; A276G

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s021.xlsx, sheet 1

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: TP53: 827C>G; A276G

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.

Nature Communications

Behjati, Sam S; Tarpey, Patrick S PS; Haase, Kerstin K; Ye, Hongtao H; Young, Matthew D MD; Alexandrov, Ludmil B LB; Farndon, Sarah J SJ; Collord, Grace G; Wedge, David C DC; Martincorena, Inigo I; Cooke, Susanna L SL; Davies, Helen H; Mifsud, William W; Lidgren, Mathias M; Martin, Sancha S; Latimer, Calli C; Maddison, Mark M; Butler, Adam P AP; Teague, Jon W JW; Pillay, Nischalan N; Shlien, Adam A; McDermott, Ultan U; Futreal, P Andrew PA; Baumhoer, Daniel D; Zaikova, Olga O; Bjerkehagen, Bodil B; Myklebost, Ola O; Amary, M Fernanda MF; Tirabosco, Roberto R; Van Loo, Peter P; Stratton, Michael R MR; Flanagan, Adrienne M AM; Campbell, Peter J PJ

Publication Date: 2017-06-23

Variant appearance in text: TP53: 827C>G; A276G

PubMed Link: 28643781

Variant Present in the following documents:

• ncomms15936-s3.xlsx, sheet 1
• ncomms15936-s5.xlsx, sheet 1

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p53 mutation status is a primary determinant of placenta-specific protein 1 expression in serous ovarian cancers.

International Journal Of Oncology

Devor, Eric J EJ; Gonzalez-Bosquet, Jesus J; Warrier, Akshaya A; Reyes, Henry D HD; Ibik, Nonye V NV; Schickling, Brandon M BM; Newtson, Andreea A; Goodheart, Michael J MJ; Leslie, Kimberly K KK

Publication Date: 2017-05

Variant appearance in text: p53: A276G

PubMed Link: 28339050

Variant Present in the following documents:

• Main text

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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: A276G

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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Individualized Molecular Analyses Guide Efforts (IMAGE): A Prospective Study of Molecular Profiling of Tissue and Blood in Metastatic Triple-Negative Breast Cancer.

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

Parsons, Heather A HA; Beaver, Julia A JA; Cimino-Mathews, Ashley A; Ali, Siraj M SM; Axilbund, Jennifer J; Chu, David D; Connolly, Roisin M RM; Cochran, Rory L RL; Croessmann, Sarah S; Clark, Travis A TA; Gocke, Christopher D CD; Jeter, Stacie C SC; Kennedy, Mark R MR; Lauring, Josh J; Lee, Justin J; Lipson, Doron D; Miller, Vincent A VA; Otto, Geoff A GA; Rosner, Gary L GL; Ross, Jeffrey S JS; Slater, Shannon S; Stephens, Philip J PJ; VanDenBerg, Dustin A DA; Wolff, Antonio C AC; Young, Lauren E LE; Zabransky, Daniel J DJ; Zhang, Zhe Z; Zorzi, Jane J; Stearns, Vered V; Park, Ben H BH

Publication Date: 2017-01-15

Variant appearance in text: TP53: A276G

PubMed Link: 27489289

Variant Present in the following documents:

• Main text

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: A276G

PubMed Link: 26975833

Variant Present in the following documents:

• srep23167-s9.xls, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TP53: A276G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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: A276G

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: 827C>G; A276G

PubMed Link: 25086664

Variant Present in the following documents:

• NIHMS612904-supplement-2.xlsx, sheet 8

View BVdb publication page

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A single mutant, A276S of p53, turns the switch to apoptosis.

Molecular Pharmaceutics

Reaz, Shams S; Mossalam, Mohanad M; Okal, Abood A; Lim, Carol S CS

Publication Date: 2013-04-01

Variant appearance in text: p53: A276G

PubMed Link: 23402381

Variant Present in the following documents:

• Main text

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: TP53: A276G

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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