Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs876658468

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: N/A

PubMed Link: 36922933

Variant Present in the following documents:

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: 577C>G; His193Asp

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: H193D

PubMed Link: 36561320

Variant Present in the following documents:

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

View BVdb publication page

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An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: TP53: 577C>G; H193D

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 3
• Table_2.xlsx, sheet 2

View BVdb publication page

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Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Cheng, Wen-Yan WY; Li, Jian-Feng JF; Zhu, Yong-Mei YM; Lin, Xiang-Jie XJ; Wen, Li-Jun LJ; Zhang, Fan F; Zhang, Yu-Liang YL; Zhao, Ming M; Fang, Hai H; Wang, Sheng-Yue SY; Lin, Xiao-Jing XJ; Qiao, Niu N; Yin, Wei W; Zhang, Jia-Nan JN; Dai, Yu-Ting YT; Jiang, Lu L; Sun, Xiao-Jian XJ; Xu, Yi Y; Zhang, Tong-Tong TT; Chen, Su-Ning SN; Zhu, Hong-Hu HH; Chen, Zhu Z; Jin, Jie J; Wu, De-Pei DP; Shen, Yang Y; Chen, Sai-Juan SJ

Publication Date: 2022-12-06

Variant appearance in text: TP53: 577C>G; H193D

PubMed Link: 36442087

Variant Present in the following documents:

• pnas.2211429119.sd02.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: H193D

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: 577C>G; H193D

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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Structure-based classification of EGFR mutations in operable pre-invasive and invasive non-small cell lung cancer: a cross-sectional study.

Journal Of Thoracic Disease

Wang, Tao T; Cao, Jun J; Song, Qi Q; Wang, Li L; Xiong, Yuanyuan Y; Chen, Rongrong R

Publication Date: 2022-09

Variant appearance in text: TP53: H193D

PubMed Link: 36245625

Variant Present in the following documents:

• Main text
• jtd-14-09-3508.pdf

View BVdb publication page

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Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology

Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W

Publication Date: 2022

Variant appearance in text: TP53: 577C>G; H193D

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine

Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W

Publication Date: 2022-09-19

Variant appearance in text: TP53: 577C>G; H193D

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_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: 577C>G

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1
• mmc5.xlsx, sheet 1

View BVdb publication page

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Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology

Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M

Publication Date: 2022-10

Variant appearance in text: TP53: 577C>G; H193D

PubMed Link: 35971249

Variant Present in the following documents:

• MOL2-16-3689-s005.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: H193D

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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Paclitaxel and cisplatin with or without cetuximab in metastatic esophageal squamous cell carcinoma: a randomized, multicenter phase II trial.

Innovation (Cambridge (Mass.))

Lu, Zhihao Z; Zhang, Yanqiao Y; Fan, Qingxia Q; Pan, Yueyin Y; Jiang, Da D; Lu, Ping P; Zhang, Jingdong J; Yuan, Xianglin X; Feng, Jifeng J; Yang, Shujun S; Yue, Wenbin W; Zhao, Lin L; Xu, Yunhua Y; Luo, Jinhua J; Shen, Lin L

Publication Date: 2022-05-10

Variant appearance in text: TP53: 577C>G; H193D

PubMed Link: 35509869

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Characterization of disease-propagating stem cells responsible for myeloproliferative neoplasm-blast phase.

Jci Insight

Wang, Xiaoli X; Rampal, Raajit K RK; Hu, Cing Siang CS; Tripodi, Joseph J; Farnoud, Noushin N; Petersen, Bruce B; Rossi, Michael R MR; Patel, Minal M; McGovern, Erin E; Najfeld, Vesna V; Iancu-Rubin, Camelia C; Lu, Min M; Davis, Andrew A; Kremyanskaya, Marina M; Weinberg, Rona Singer RS; Mascarenhas, John J; Hoffman, Ronald R

Publication Date: 2022-04-22

Variant appearance in text: TP53: H193D

PubMed Link: 35259128

Variant Present in the following documents:

• jciinsight-7-156534-s067.xlsx, sheet 1

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: TP53: H193D

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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: 577C>G; H193D

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 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 6

View BVdb publication page

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: TP53: H193D

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 18

View BVdb publication page

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Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients.

Breast Cancer Research And Treatment

Nteliopoulos, Georgios G; Page, Karen K; Hills, Allison A; Howarth, Karen K; Emmett, Warren W; Green, Emma E; Martinson, Luke J LJ; Fernadez-Garcia, Daniel D; Hastings, Robert R; Guttery, David S DS; Kenny, Laura L; Stebbing, Justin J; Cleator, Susan S; Rehman, Farah F; Gleason, Kelly L T KLT; Sanela, Andrijac A; Ion, Charlotte C; Rushton, Amelia J AJ; Rosenfeld, Nitzan N; Coombes, R Charles RC; Shaw, Jacqueline A JA

Publication Date: 2021-07

Variant appearance in text: TP53: H193D

PubMed Link: 34097174

Variant Present in the following documents:

• 10549_2021_6220_MOESM2_ESM.xlsx, sheet 1
• 10549_2021_6220_MOESM2_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: H193D

PubMed Link: 33875650

Variant Present in the following documents:

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

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: 577C>G; H193D

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: TP53: H193D

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

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: H193D

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.xlsx, sheet 1

View BVdb publication page

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Evaluation of the RAS signaling network in response to MEK inhibition using organoids derived from a familial adenomatous polyposis patient.

Scientific Reports

Osumi, Hiroki H; Muroi, Atsushi A; Sakahara, Mizuho M; Kawachi, Hiroshi H; Okamoto, Takuya T; Natsume, Yasuko Y; Yamanaka, Hitomi H; Takano, Hiroshi H; Kusama, Daisuke D; Shinozaki, Eiji E; Ooki, Akira A; Yamaguchi, Kensei K; Ueno, Masashi M; Takeuchi, Kengo K; Noda, Tetsuo T; Nagayama, Satoshi S; Koshikawa, Naohiko N; Yao, Ryoji R

Publication Date: 2020-10-15

Variant appearance in text: TP53: 577C>G; H193D

PubMed Link: 33060766

Variant Present in the following documents:

• 41598_2020_74530_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs876658468

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Journal Of Medical Genetics

Raad, Sabine S; Rolain, Marion M; Coutant, Sophie S; Derambure, Céline C; Lanos, Raphael R; Charbonnier, Françoise F; Bou, Jacqueline J; Bouvignies, Emilie E; Lienard, Gwendoline G; Vasseur, Stéphanie S; Farrell, Michael M; Ingster, Olivier O; Baert Desurmont, Stéphanie S; Kasper, Edwige E; Bougeard, Gaëlle G; Frébourg, Thierry T; Tournier, Isabelle I

Publication Date: 2021-12

Variant appearance in text: TP53: 577C>G

PubMed Link: 33051313

Variant Present in the following documents:

• jmedgenet-2020-107059supp002.pdf

View BVdb publication page

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Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Journal Of Medical Genetics

Raad, Sabine S; Rolain, Marion M; Coutant, Sophie S; Derambure, Céline C; Lanos, Raphael R; Charbonnier, Françoise F; Bou, Jacqueline J; Bouvignies, Emilie E; Lienard, Gwendoline G; Vasseur, Stéphanie S; Farrell, Michael M; Ingster, Olivier O; Baert Desurmont, Stéphanie S; Kasper, Edwige E; Bougeard, Gaëlle G; Frébourg, Thierry T; Tournier, Isabelle I

Publication Date: 2021-12

Variant appearance in text: TP53: 577C>G

PubMed Link: 33051313

Variant Present in the following documents:

• jmedgenet-2020-107059supp002.pdf

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: H193D

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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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: TP53: H193D

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Quadruplicate Synchronous Adenocarcinoma of the Colon with Distant Metastases-Long-Term Molecular Follow-Up by KRAS and TP53 Mutational Profiling.

Diagnostics (Basel, Switzerland)

Bádon, Emese Sarolta ES; Mokánszki, Attila A; Mónus, Anikó A; András, Csilla C; Damjanovich, László L; Méhes, Gábor G

Publication Date: 2020-06-16

Variant appearance in text: p53: His193Asp

PubMed Link: 32560038

Variant Present in the following documents:

• Main text
• diagnostics-10-00407.pdf

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: TP53: H193D

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: TP53: 577C>G; H193D

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: TP53: H193D

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Nature Communications

Mitchell, Khadijah A KA; Nichols, Noah N; Tang, Wei W; Walling, Jennifer J; Stevenson, Holly H; Pineda, Marbin M; Stefanescu, Roxana R; Edelman, Daniel C DC; Girvin, Andrew T AT; Zingone, Adriana A; Sinha, Sanju S; Bowman, Elise E; Rossi, Emily L EL; Arauz, Rony F RF; Jack Zhu, Yuelin Y; Lack, Justin J; Weingartner, Elizabeth E; Waterfall, Joshua J JJ; Pine, Sharon R SR; Simmons, John J; Meltzer, Paul P; Ryan, Bríd M BM

Publication Date: 2019-12-16

Variant appearance in text: TP53: 577C>G; H193D

PubMed Link: 31844068

Variant Present in the following documents:

• 41467_2019_13732_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: TP53: H193D

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 7

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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: H193D

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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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: 577C>G; His193Asp

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
• supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1

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Analysis of error profiles in deep next-generation sequencing data.

Genome Biology

Ma, Xiaotu X; Shao, Ying Y; Tian, Liqing L; Flasch, Diane A DA; Mulder, Heather L HL; Edmonson, Michael N MN; Liu, Yu Y; Chen, Xiang X; Newman, Scott S; Nakitandwe, Joy J; Li, Yongjin Y; Li, Benshang B; Shen, Shuhong S; Wang, Zhaoming Z; Shurtleff, Sheila S; Robison, Leslie L LL; Levy, Shawn S; Easton, John J; Zhang, Jinghui J

Publication Date: 2019-03-14

Variant appearance in text: TP53: H193D

PubMed Link: 30867008

Variant Present in the following documents:

• 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7

View BVdb publication page

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Deep targeted sequencing of TP53 in chronic lymphocytic leukemia: clinical impact at diagnosis and at time of treatment.

Haematologica

Brieghel, Christian C; Kinalis, Savvas S; Yde, Christina W CW; Schmidt, Ane Y AY; Jønson, Lars L; Andersen, Michael A MA; da Cunha-Bang, Caspar C; Pedersen, Lone B LB; Geisler, Christian H CH; Nielsen, Finn C FC; Niemann, Carsten U CU

Publication Date: 2019-04

Variant appearance in text: TP53: 577C>G

PubMed Link: 30514802

Variant Present in the following documents:

• 2018.195818.BRIEGHEL_SUPPL.pdf

View BVdb publication page

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Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.

Nature Communications

Wagner, Alex H AH; Devarakonda, Siddhartha S; Skidmore, Zachary L ZL; Krysiak, Kilannin K; Ramu, Avinash A; Trani, Lee L; Kunisaki, Jason J; Masood, Ashiq A; Waqar, Saiama N SN; Spies, Nicholas C NC; Morgensztern, Daniel D; Waligorski, Jason J; Ponce, Jennifer J; Fulton, Robert S RS; Maggi, Leonard B LB; Weber, Jason D JD; Watson, Mark A MA; O'Conor, Christopher J CJ; Ritter, Jon H JH; Olsen, Rachelle R RR; Cheng, Haixia H; Mukhopadhyay, Anandaroop A; Can, Ismail I; Cessna, Melissa H MH; Oliver, Trudy G TG; Mardis, Elaine R ER; Wilson, Richard K RK; Griffith, Malachi M; Griffith, Obi L OL; Govindan, Ramaswamy R

Publication Date: 2018-09-17

Variant appearance in text: TP53: H193D

PubMed Link: 30224629

Variant Present in the following documents:

• 41467_2018_6162_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports

Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U

Publication Date: 2018-09-10

Variant appearance in text: TP53: H193D

PubMed Link: 30202034

Variant Present in the following documents:

• 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30

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Heterogeneous mutation pattern in tumor tissue and circulating tumor DNA warrants parallel NGS panel testing.

Molecular Cancer

Guo, Qiaomei Q; Wang, Junlei J; Xiao, Jianfeng J; Wang, Lin L; Hu, Xiaomeng X; Yu, Wenjun W; Song, Gang G; Lou, Jiatao J; Chen, JianFeng J

Publication Date: 2018-08-28

Variant appearance in text: TP53: 577C>G; His193Asp

PubMed Link: 30153823

Variant Present in the following documents:

• 12943_2018_875_MOESM5_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: 577C>G; His193Asp

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s1.xlsx, sheet 2

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Mutational profiles of breast cancer metastases from a rapid autopsy series reveal multiple evolutionary trajectories.

Jci Insight

Avigdor, Bracha Erlanger BE; Cimino-Mathews, Ashley A; DeMarzo, Angelo M AM; Hicks, Jessica L JL; Shin, James J; Sukumar, Saraswati S; Fetting, John J; Argani, Pedram P; Park, Ben H BH; Wheelan, Sarah J SJ

Publication Date: 2017-12-21

Variant appearance in text: TP53: His193Asp

PubMed Link: 29263308

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 577C>G; H193D

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

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Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

Human Molecular Genetics

Zerdoumi, Yasmine Y; Lanos, Raphaël R; Raad, Sabine S; Flaman, Jean-Michel JM; Bougeard, Gaëlle G; Frebourg, Thierry T; Tournier, Isabelle I

Publication Date: 2017-07-15

Variant appearance in text: p53: 577C>G

PubMed Link: 28369373

Variant Present in the following documents:

• Main text
• ddx106.pdf

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Expression profiling of cutaneous squamous cell carcinoma with perineural invasion implicates the p53 pathway in the process.

Scientific Reports

Warren, Timothy A TA; Broit, Natasa N; Simmons, Jacinta L JL; Pierce, Carly J CJ; Chawla, Sharad S; Lambie, Duncan L J DL; Quagliotto, Gary G; Brown, Ian S IS; Parsons, Peter G PG; Panizza, Benedict J BJ; Boyle, Glen M GM

Publication Date: 2016-09-26

Variant appearance in text: TP53: 577C>G

PubMed Link: 27665737

Variant Present in the following documents:

• srep34081-s1.pdf

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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: H193D

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: TP53: 577C>G; H193D

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Oncotarget

Jean, Stephanie S; Li, Jiaqi J; Katsaros, Dionyssios D; Wubbenhorst, Bradley B; Maxwell, Kara N KN; Fishbein, Lauren L; McLane, Michael W MW; Benedetto, Chiara C; Canuto, Emilie Marion EM; Mitra, Nandita N; Zhang, Lin L; Nathanson, Katherine L KL; Tanyi, Janos L JL

Publication Date: 2016-07-26

Variant appearance in text: TP53: H193D

PubMed Link: 27191893

Variant Present in the following documents:

• oncotarget-07-48577-s002.xlsx, 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: H193D

PubMed Link: 26975833

Variant Present in the following documents:

• srep23167-s9.xls, sheet 1

View BVdb publication page

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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: H193D

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: H193D

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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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: TP53: H193D

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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High frequency of telomerase reverse-transcriptase promoter somatic mutations in hepatocellular carcinoma and preneoplastic lesions.

Nature Communications

Nault, Jean Charles JC; Mallet, Maxime M; Pilati, Camilla C; Calderaro, Julien J; Bioulac-Sage, Paulette P; Laurent, Christophe C; Laurent, Alexis A; Cherqui, Daniel D; Balabaud, Charles C; Zucman-Rossi, Jessica J; Zucman Rossi, Jessica J

Publication Date: 2013

Variant appearance in text: TP53: 577C>G; His193Asp

PubMed Link: 23887712

Variant Present in the following documents:

• ncomms3218-s1.pdf

View BVdb publication page

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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: H193D

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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Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.

Plos One

Chen, Zhenbin Z; Feng, Jinong J; Buzin, Carolyn H CH; Sommer, Steve S SS

Publication Date: 2008

Variant appearance in text: TP53: H193D

PubMed Link: 19005564

Variant Present in the following documents:

• pone.0003714.s007.xls, sheet 1

View BVdb publication page

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