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: G360A

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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

Plos Genetics

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

Publication Date: 2023-01-03

Variant appearance in text: rs35993958

PubMed Link: 36595552

Variant Present in the following documents:

• pgen.1010563.s004.xlsx, sheet 1

View BVdb publication page

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

Frontiers In Genetics

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

Publication Date: 2022

Variant appearance in text: rs35993958

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: 1079G>C

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology

Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X

Publication Date: 2021

Variant appearance in text: TP53: 1079G>C; G360A

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Briefings In Bioinformatics

Ben-Cohen, Gil G; Doffe, Flora F; Devir, Michal M; Leroy, Bernard B; Soussi, Thierry T; Rosenberg, Shai S

Publication Date: 2022-03-10

Variant appearance in text: TP53: 1079G>C; G360A; rs35993958

PubMed Link: 35043155

Variant Present in the following documents:

• Main text
• bbab524.pdf
• supplementary_table_s7_bbab524.xlsx, sheet 2
• supplementary_figure_s4a_and_b_bbab524.pdf

View BVdb publication page

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Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Cancer Research And Treatment

Park, Ji Soo JS; Shin, Saeam S; Lee, Yoon Jung YJ; Lee, Seung-Tae ST; Nam, Eun Ji EJ; Han, Jung Woo JW; Lee, Sun Hwa SH; Kim, Tae Il TI; Park, Hyung Seok HS

Publication Date: 2022-10

Variant appearance in text: TP53: 1079G>C; Gly360Ala; rs35993958

PubMed Link: 34793666

Variant Present in the following documents:

• crt-2021-978_S4_Table.pdf

View BVdb publication page

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HER2-amplified metastatic lung adenocarcinoma responds to fourth-line pyrotinib therapy: A case report.

Molecular And Clinical Oncology

Gong, Kan K; Yang, Yi Y; Huang, Huan H; Kuang, Xunjie X; Yang, Xueqin X

Publication Date: 2021-10

Variant appearance in text: TP53: G360A

PubMed Link: 34476097

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: 1079G>C; G360A

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 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

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: 1079G>C

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: TP53: 1079G>C

PubMed Link: 33257846

Variant Present in the following documents:

• Main text
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_Article_672.pdf
• 41418_2020_672_MOESM5_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM2_ESM.pdf
• 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: TP53: 1079G>C

PubMed Link: 33257846

Variant Present in the following documents:

• Main text
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_Article_672.pdf
• 41418_2020_672_MOESM5_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM2_ESM.pdf
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4

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: Gly360Ala

PubMed Link: 33245408

Variant Present in the following documents:

• Main text
• 404_2020_5883_MOESM1_ESM.pdf
• 404_2020_Article_5883.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: Gly360Ala

PubMed Link: 33245408

Variant Present in the following documents:

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

View BVdb publication page

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Associations among smoking, MGMT hypermethylation, TP53-mutations, and relapse in head and neck squamous cell carcinoma.

Plos One

Matsuda, Shinichi S; Mafune, Aki A; Kohda, Nagisa N; Hama, Takanori T; Urashima, Mitsuyoshi M

Publication Date: 2020

Variant appearance in text: TP53: G360A

PubMed Link: 32324779

Variant Present in the following documents:

• Main text
• pone.0231932.pdf

View BVdb publication page

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: TP53: G360A; rs35993958

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 7
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2

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: 1079G>C; G360A

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: TP53: 1079G>C; Gly360Ala

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.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: 1079G>C; Gly360Ala

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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Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

Human Mutation

de Andrade, Kelvin C KC; Frone, Megan N MN; Wegman-Ostrosky, Talia T; Khincha, Payal P PP; Kim, Jung J; Amadou, Amina A; Santiago, Karina M KM; Fortes, Fernanda P FP; Lemonnier, Nathanaël N; Mirabello, Lisa L; Stewart, Douglas R DR; Hainaut, Pierre P; Kowalski, Luiz P LP; Savage, Sharon A SA; Achatz, Maria I MI

Publication Date: 2019-01

Variant appearance in text: TP53: G360A

PubMed Link: 30352134

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1079G>C; G360A

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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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: 1079G>C; Gly360Ala

PubMed Link: 30153823

Variant Present in the following documents:

• 12943_2018_875_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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TP53 alterations in Wilms tumour represent progression events with strong intratumour heterogeneity that are closely linked but not limited to anaplasia.

The Journal Of Pathology. Clinical Research

Wegert, Jenny J; Vokuhl, Christian C; Ziegler, Barbara B; Ernestus, Karen K; Leuschner, Ivo I; Furtwängler, Rhoikos R; Graf, Norbert N; Gessler, Manfred M

Publication Date: 2017-10

Variant appearance in text: TP53: G360A

PubMed Link: 29085664

Variant Present in the following documents:

• Main text
• CJP2-3-234.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TP53: 1079G>C; Gly360Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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MDM2 and CDK4 amplifications are rare events in salivary duct carcinomas.

Oncotarget

Grünewald, Inga I; Trautmann, Marcel M; Busch, Alina A; Bauer, Larissa L; Huss, Sebastian S; Schweinshaupt, Petra P; Vollbrecht, Claudia C; Odenthal, Margarete M; Quaas, Alexander A; Büttner, Reinhard R; Meyer, Moritz F MF; Beutner, Dirk D; Hüttenbrink, Karl-Bernd KB; Wardelmann, Eva E; Stenner, Markus M; Hartmann, Wolfgang W

Publication Date: 2016-11-15

Variant appearance in text: TP53: 1079G>C

PubMed Link: 27662657

Variant Present in the following documents:

• Main text
• oncotarget-07-75261.pdf

View BVdb publication page

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

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TP53: G360A

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs35993958

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, 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: G360A

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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Targeted next generation sequencing of parotid gland cancer uncovers genetic heterogeneity.

Oncotarget

Grünewald, Inga I; Vollbrecht, Claudia C; Meinrath, Jeannine J; Meyer, Moritz F MF; Heukamp, Lukas C LC; Drebber, Uta U; Quaas, Alexander A; Beutner, Dirk D; Hüttenbrink, Karl-Bernd KB; Wardelmann, Eva E; Hartmann, Wolfgang W; Büttner, Reinhard R; Odenthal, Margarete M; Stenner, Markus M

Publication Date: 2015-07-20

Variant appearance in text: TP53: 1079G>C

PubMed Link: 26053092

Variant Present in the following documents:

• Main text

View BVdb publication page

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Homozygous deletions of UGT2B17 modifies effects of smoking on TP53-mutations and relapse of head and neck carcinoma.

Bmc Cancer

Mafune, Aki A; Hama, Takanori T; Suda, Toshihito T; Suzuki, Yutaka Y; Ikegami, Masahiro M; Sakanashi, Chikako C; Imai, Satoko S; Nakashima, Akio A; Yokoo, Takashi T; Wada, Kota K; Kojima, Hiromi H; Urashima, Mitsuyoshi M

Publication Date: 2015-03-31

Variant appearance in text: TP53: G360A

PubMed Link: 25886176

Variant Present in the following documents:

• Main text
• 12885_2015_Article_1220.pdf

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: TP53: 1079G>C; G360A; rs35993958

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene.

Plos One

Chitrala, Kumaraswamy Naidu KN; Yeguvapalli, Suneetha S

Publication Date: 2014

Variant appearance in text: TP53: G360A; rs35993958

PubMed Link: 25105660

Variant Present in the following documents:

• Main text
• pone.0104242.pdf

View BVdb publication page

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Distinct effects of alcohol consumption and smoking on genetic alterations in head and neck carcinoma.

Plos One

Urashima, Mitsuyoshi M; Hama, Takanori T; Suda, Toshihito T; Suzuki, Yutaka Y; Ikegami, Masahiro M; Sakanashi, Chikako C; Akutsu, Taisuke T; Amagaya, Suguru S; Horiuchi, Kazuhumi K; Imai, Yu Y; Mezawa, Hidetoshi H; Noya, Miki M; Nakashima, Akio A; Mafune, Aki A; Kato, Takakuni T; Kojima, Hiromi H

Publication Date: 2013

Variant appearance in text: TP53: G360A

PubMed Link: 24278325

Variant Present in the following documents:

• Main text
• pone.0080828.pdf

View BVdb publication page

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Mapping the p53 transcriptome universe using p53 natural polymorphs.

Cell Death And Differentiation

Wang, B B; Niu, D D; Lam, T H TH; Xiao, Z Z; Ren, E C EC

Publication Date: 2014-04

Variant appearance in text: p53: G360A

PubMed Link: 24076587

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.

The Journal Of Biological Chemistry

Kamada, Rui R; Nomura, Takao T; Anderson, Carl W CW; Sakaguchi, Kazuyasu K

Publication Date: 2011-01-07

Variant appearance in text: TP53: G360A

PubMed Link: 20978130

Variant Present in the following documents:

• Main text

View BVdb publication page

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TP53 mutations in human cancers: origins, consequences, and clinical use.

Cold Spring Harbor Perspectives In Biology

Olivier, Magali M; Hollstein, Monica M; Hainaut, Pierre P

Publication Date: 2010-01

Variant appearance in text: TP53: 1079G>C

PubMed Link: 20182602

Variant Present in the following documents:

• Main text

View BVdb publication page

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