Publications:

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: TP53: V73M

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.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: rs587782423

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 7

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: 217G>A

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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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: 217G>A; Val73Ile

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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Correlation of changes in subclonal architecture with progression in the MMRF CoMMpass study.

Translational Oncology

Kaur, Gurvinder G; Jena, Lingaraja L; Gupta, Ritu R; Farswan, Akanksha A; Gupta, Anubha A; Sriram, K K

Publication Date: 2022-06-28

Variant appearance in text: TP53: 217G>A; Val73Met

PubMed Link: 35777247

Variant Present in the following documents:

• mmc5.xls, sheet 3

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: V73M

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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Establishment of patient-derived organoids and a characterization-based drug discovery platform for treatment of pancreatic cancer.

Bmc Cancer

Watanabe, Sadanori S; Yogo, Akitada A; Otsubo, Tsuguteru T; Umehara, Hiroki H; Oishi, Jun J; Kodo, Toru T; Masui, Toshihiko T; Takaishi, Shigeo S; Seno, Hiroshi H; Uemoto, Shinji S; Hatano, Etsuro E

Publication Date: 2022-05-03

Variant appearance in text: rs587782423

PubMed Link: 35505283

Variant Present in the following documents:

• 12885_2022_9619_MOESM1_ESM.xlsx, sheet 9
• 12885_2022_9619_MOESM1_ESM.xlsx, sheet 7

View BVdb publication page

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Real-world data analysis of patients with cancer of unknown primary.

Scientific Reports

Kang, Sora S; Jeong, Jae Ho JH; Yoon, Shinkyo S; Yoo, Changhoon C; Kim, Kyu-Pyo KP; Cho, Hyungwoo H; Ryoo, Baek-Yeol BY; Jung, Jinhong J; Kim, Jeong Eun JE

Publication Date: 2021-11-29

Variant appearance in text: TP53: V73M

PubMed Link: 34845302

Variant Present in the following documents:

• 41598_2021_2543_MOESM1_ESM.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: TP53: V73M

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: TP53: V73M

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11

View BVdb publication page

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Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology

Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A

Publication Date: 2022-02

Variant appearance in text: rs587782423

PubMed Link: 34494161

Variant Present in the following documents:

• 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
• 428_2021_3186_MOESM22_ESM.xlsx, sheet 1

View BVdb publication page

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

Scientific Reports

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

Publication Date: 2021-07-12

Variant appearance in text: TP53: 217G>A; Val73Met; rs587782423

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 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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: 217G>A; V73M

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.

Human Mutation

Fortuno, Cristina C; Lee, Kristy K; Olivier, Magali M; Pesaran, Tina T; Mai, Phuong L PL; de Andrade, Kelvin C KC; Attardi, Laura D LD; Crowley, Stephanie S; Evans, D Gareth DG; Feng, Bing-Jian BJ; Foreman, Ann K M AKM; Frone, Megan N MN; Huether, Robert R; James, Paul A PA; McGoldrick, Kelly K; Mester, Jessica J; Seifert, Bryce A BA; Slavin, Thomas P TP; Witkowski, Leora L; Zhang, Liying L; Plon, Sharon E SE; Spurdle, Amanda B AB; Savage, Sharon A SA; ,

Publication Date: 2021-03

Variant appearance in text: TP53: 217G>A

PubMed Link: 33300245

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs587782423

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs587782423

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.

Archives Of Gynecology And Obstetrics

Grill, Sabine S; Ramser, Juliane J; Hellebrand, Heide H; Pfarr, Nicole N; Boxberg, Melanie M; Brambs, Christine C; Ditsch, Nina N; Meindl, Alfons A; Groß, Eva E; Meitinger, Thomas T; Kiechle, Marion M; Quante, Anne S AS

Publication Date: 2021-06

Variant appearance in text: TP53: Val73Met

PubMed Link: 33245408

Variant Present in the following documents:

• Main text
• 404_2020_Article_5883.pdf
• 404_2020_5883_MOESM1_ESM.pdf

View BVdb publication page

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TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.

Archives Of Gynecology And Obstetrics

Grill, Sabine S; Ramser, Juliane J; Hellebrand, Heide H; Pfarr, Nicole N; Boxberg, Melanie M; Brambs, Christine C; Ditsch, Nina N; Meindl, Alfons A; Groß, Eva E; Meitinger, Thomas T; Kiechle, Marion M; Quante, Anne S AS

Publication Date: 2021-06

Variant appearance in text: TP53: Val73Met

PubMed Link: 33245408

Variant Present in the following documents:

• Main text
• 404_2020_Article_5883.pdf
• 404_2020_5883_MOESM1_ESM.pdf

View BVdb publication page

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Defining relative mutational difficulty to understand cancer formation.

Cell Discovery

Shan, Lin L; Yu, Jiao J; He, Zhengjin Z; Chen, Shishuang S; Liu, Mingxian M; Ding, Hongyu H; Xu, Liang L; Zhao, Jie J; Yang, Ailing A; Jiang, Hai H

Publication Date: 2020

Variant appearance in text: p53: V73M

PubMed Link: 32704382

Variant Present in the following documents:

• 41421_2020_177_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: TP53: 217G>A; V73M

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM5_ESM.xls, sheet 1

View BVdb publication page

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Nucleotide variations of TP53 exon 4 found in intracranial meningioma and in silico prediction of their significance.

Molecular And Clinical Oncology

Bukovac, Anja A; Kafka, Anja A; Hrašćan, Reno R; Vladušić, Tomislav T; Pećina-Šlaus, Nives N

Publication Date: 2019-12

Variant appearance in text: p53: 217G>A

PubMed Link: 31692929

Variant Present in the following documents:

• Main text
• mco-11-06-0563.pdf

View BVdb publication page

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Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine

Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-28

Variant appearance in text: rs587782423

PubMed Link: 31455347

Variant Present in the following documents:

• 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Scientific Reports

Jaramillo Oquendo, Carolina C; Parker, Helen H; Oscier, David D; Ennis, Sarah S; Gibson, Jane J; Strefford, Jonathan C JC

Publication Date: 2019-07-18

Variant appearance in text: TP53: V73M; rs587782423

PubMed Link: 31320741

Variant Present in the following documents:

• 41598_2019_46906_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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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: V73M

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: 217G>A; Val73Met

PubMed Link: 30886117

Variant Present in the following documents:

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

View BVdb publication page

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Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Ebiomedicine

Liu, Xiaoyu X; Liu, Lingxiao L; Ji, Yuan Y; Li, Changyu C; Wei, Tao T; Yang, Xuerong X; Zhang, Yuefang Y; Cai, Xuyu X; Gao, Yangbin Y; Xu, Weihong W; Rao, Shengxiang S; Jin, Dayong D; Lou, Wenhui W; Qiu, Zilong Z; Wang, Xiaolin X

Publication Date: 2019-03

Variant appearance in text: rs587782423

PubMed Link: 30857943

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: TP53: 217G>A; Val73Met; rs587782423

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Characterization of Mutations in the Mitochondrial Encoded Electron Transport Chain Complexes in Acute Myeloid Leukemia.

Scientific Reports

Wu, Sharon S; Akhtari, Mojtaba M; Alachkar, Houda H

Publication Date: 2018-09-05

Variant appearance in text: TP53: V73M

PubMed Link: 30185817

Variant Present in the following documents:

• Main text

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: TP53: V73M; rs587782423

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

View BVdb publication page

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Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer

Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S

Publication Date: 2016-10-18

Variant appearance in text: TP53: 217G>A; Val73Met

PubMed Link: 27756406

Variant Present in the following documents:

• 12943_2016_549_MOESM2_ESM.xlsx, sheet 1

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: V73M

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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Gastrointestinal malignancies harbor actionable MET exon 14 deletions.

Oncotarget

Lee, Jeeyun J; Ou, Sai-Hong Ignatius SH; Lee, Ji Min JM; Kim, Hee Cheol HC; Hong, Mineui M; Kim, Sun Young SY; Jang, Jiryeon J; Ahn, Soomin S; Kang, So Young SY; Lee, Sujin S; Kim, Seung Tae ST; Kim, Bogyou B; Choi, Jaehyun J; Kim, Kyung-Ah KA; Lee, Jiyun J; Park, Charny C; Park, Se Hoon SH; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Park, Keunchil K; Park, Young Suk YS; Kim, Kyoung-Mee KM

Publication Date: 2015-09-29

Variant appearance in text: TP53: V73M

PubMed Link: 26375439

Variant Present in the following documents:

• Main text
• oncotarget-06-28211.pdf

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: V73M

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: V73M

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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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: V73M

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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Down-regulation of epidermal growth factor receptor by selective expansion of a 5'-end regulatory dinucleotide repeat in colon cancer with microsatellite instability.

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

Baranovskaya, Svetlana S; Martin, Yolanda Y; Alonso, Sergio S; Pisarchuk, Ksenia L KL; Falchetti, Mario M; Dai, Yuichi Y; Khaldoyanidi, Sophia S; Krajewski, Stan S; Novikova, Inna I; Sidorenko, Yuri S YS; Perucho, Manuel M; Malkhosyan, Sergei R SR

Publication Date: 2009-07-15

Variant appearance in text: p53: Val73Met

PubMed Link: 19584170

Variant Present in the following documents:

• Main text

View BVdb publication page

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