Publications:

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Molecular characterization of colorectal cancer patients

Biomedica : Revista Del Instituto Nacional De Salud

Afanador, Carlos Humberto CH; Palacio, Katherine Andrea KA; Isaza, Luis Fernando LF; Ahumada, Enoc E; Ocampo, Carlos Mauricio CM; Muñetón, Carlos Mario CM

Publication Date: 2022-05-01

Variant appearance in text: TP53: 782+72C>T; rs12947788

PubMed Link: 35866738

Variant Present in the following documents:

• 2590-7379-bio-42-s1-5957.pdf

View BVdb publication page

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Biallelic and gene-wide genomic substitution for endogenous intron and retroelement mutagenesis in human cells.

Nature Communications

Ohno, Tomoyuki T; Akase, Taichi T; Kono, Shunya S; Kurasawa, Hikaru H; Takashima, Takuto T; Kaneko, Shinya S; Aizawa, Yasunori Y

Publication Date: 2022-07-21

Variant appearance in text: rs12947788

PubMed Link: 35864085

Variant Present in the following documents:

• Main text
• 41467_2022_Article_31982.pdf

View BVdb publication page

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Genetic Susceptibility in Understanding of Pancreatic Ductal Adenocarcinoma Risk: A Decade-Long Effort of the PANDORA Consortium.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Vodickova, Ludmila L; Horak, Josef J; Vodicka, Pavel P

Publication Date: 2022-05-04

Variant appearance in text: TP53: 782+72C>T; rs12947788

PubMed Link: 35506247

Variant Present in the following documents:

• Main text
• 942.pdf

View BVdb publication page

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Clinical Impact of X-Ray Repair Cross-Complementary 1 (XRCC1) and the Immune Environment in Colorectal Adenoma-Carcinoma Pathway Progression.

Journal Of Inflammation Research

Zhang, Yu Y; Zhang, Xin X; Jin, Zhuoyi Z; Chen, Huiyan H; Zhang, Chenjing C; Wang, Wangyue W; Jing, Jiyong J; Pan, Wensheng W

Publication Date: 2021

Variant appearance in text: rs12947788

PubMed Link: 34737598

Variant Present in the following documents:

• Main text
• jir-14-5403.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: TP53: 782+72C>T; rs12947788

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genotyping data of routinely processed matched primary/metastatic tumor samples.

Data In Brief

Kotoula, Vassiliki V; Chatzopoulos, Kyriakos K; Papadopoulou, Kyriaki K; Giannoulatou, Eleni E; Koliou, Georgia-Angeliki GA; Karavasilis, Vasilios V; Pazarli, Elissavet E; Pervana, Stavroula S; Kafiri, Georgia G; Tsoulfas, Georgios G; Chrisafi, Sofia S; Sgouramali, Helen H; Papakostas, Pavlos P; Pectasides, Dimitrios D; Hytiroglou, Prodromos P; Pentheroudakis, George G; Fountzilas, George G

Publication Date: 2021-02

Variant appearance in text: rs12947788

PubMed Link: 33365374

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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: rs12947788

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

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: rs12947788

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population.

Breast Cancer (Tokyo, Japan)

Rogoża-Janiszewska, Emilia E; Malińska, Karolina K; Górski, Bohdan B; Scott, Rodney J RJ; Cybulski, Cezary C; Kluźniak, Wojciech W; Lener, Marcin M; Jakubowska, Anna A; Gronwald, Jacek J; Huzarski, Tomasz T; Lubiński, Jan J; Dębniak, Tadeusz T

Publication Date: 2021-01

Variant appearance in text: rs12947788

PubMed Link: 32888145

Variant Present in the following documents:

• Main text
• 12282_2020_Article_1151.pdf

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: TP53: 782+72C>T

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Pattern of nucleotide variants of TP53 and their correlation with the expression of p53 and its downstream proteins in a Sri Lankan cohort of breast and colorectal cancer patients.

Bmc Cancer

Manoharan, Vahinipriya V; Karunanayake, Eric Hamilton EH; Tennekoon, Kamani Hemamala KH; De Silva, Sumadee S; Imthikab, Ahamed Ilyas Ahamed AIA; De Silva, Kanishka K; Angunawela, Preethika P; Vishwakula, Sameera S; Lunec, John J

Publication Date: 2020-01-30

Variant appearance in text: rs12947788

PubMed Link: 32000721

Variant Present in the following documents:

• Main text
• 12885_2020_Article_6573.pdf

View BVdb publication page

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p53 protein expression affected by TP53 polymorphism is associated with the biological behavior and prognosis of low rectal cancer.

Oncology Letters

Zhang, Guangzhe G; Xu, Qian Q; Wang, Zeyang Z; Sun, Liping L; Lv, Zhi Z; Liu, Jingwei J; Xing, Chengzhong C; Yuan, Yuan Y

Publication Date: 2019-12

Variant appearance in text: rs12947788

PubMed Link: 31788124

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rectal cancer sub-clones respond differentially to neoadjuvant therapy.

Neoplasia (New York, N.Y.)

Frydrych, Lynn M LM; Ulintz, Peter P; Bankhead, Armand A; Sifuentes, Christopher C; Greenson, Joel J; Maguire, Lillias L; Irwin, Regina R; Fearon, Eric R ER; Hardiman, Karin M KM

Publication Date: 2019-10

Variant appearance in text: TP53: 782+72C>T

PubMed Link: 31521947

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Haplotype and linkage disequilibrium of TP53-WRAP53 locus in Iranian-Azeri women with breast cancer.

Plos One

Pouladi, Nasser N; Abdolahi, Sepehr S; Farajzadeh, Davoud D; Hosseinpour Feizi, Mohammad Ali MA

Publication Date: 2019

Variant appearance in text: rs12947788

PubMed Link: 31387111

Variant Present in the following documents:

• Main text
• pone.0220727.pdf

View BVdb publication page

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Five P53 SNPs Involved in Low Rectal Cancer Risk and Prognosis in a Chinese Population.

Journal Of Cancer

Zhang, Guangzhe G; Xu, Qian Q; Liu, Jingwei J; Lv, Zhi Z; Lu, Youzhu Y; Yang, Huaiwei H; Sun, Liping L; Xing, Chengzhong C; Yuan, Yuan Y

Publication Date: 2019

Variant appearance in text: rs12947788

PubMed Link: 31205533

Variant Present in the following documents:

• Main text
• jcav10p1772.pdf

View BVdb publication page

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Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer.

Molecular Medicine Reports

Manoharan, Vahinipriya V; Karunanayake, Eric Hamilton EH; Tennekoon, Kamani Hemamala KH; De Silva, Sumadee S; De Silva, Kanishka K; Angunawela, Preethika P; Lunec, John J

Publication Date: 2019-04

Variant appearance in text: p53: 782+72C>T; rs12947788

PubMed Link: 30816478

Variant Present in the following documents:

• Main text
• mmr-19-04-2781.pdf

View BVdb publication page

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Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.

Ebiomedicine

Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V

Publication Date: 2019-03

Variant appearance in text: rs12947788

PubMed Link: 30737087

Variant Present in the following documents:

• mmc1.xlsx, sheet 9

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: TP53: 782+72C>T; rs12947788

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs12947788

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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RNA-Seq reveals the existence of a CDKN1C-E2F1-TP53 axis that is altered in human T-cell lymphoblastic lymphomas.

Bmc Cancer

López-Nieva, Pilar P; Fernández-Navarro, Pablo P; Vaquero-Lorenzo, Concepción C; Villa-Morales, María M; Graña-Castro, Osvaldo O; Cobos-Fernández, María Ángeles MÁ; López-Lorenzo, José Luis JL; Llamas, Pilar P; González-Sanchez, Laura L; Sastre, Isabel I; Pollan, Marina M; Malumbres, Marcos M; Santos, Javier J; Fernández-Piqueras, José J

Publication Date: 2018-04-16

Variant appearance in text: rs12947788

PubMed Link: 29661169

Variant Present in the following documents:

• 12885_2018_4304_MOESM7_ESM.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs12947788

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget

Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-01-31

Variant appearance in text: rs12947788

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 1

View BVdb publication page

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TP53 Polymorphisms and Colorectal Cancer Risk in Patients with Lynch Syndrome in Taiwan: A Retrospective Cohort Study.

Plos One

Kamiza, Abram Bunya AB; Hsieh, Ling-Ling LL; Tang, Reiping R; Chien, Huei-Tzu HT; Lai, Chih-Hsiung CH; Chiu, Li-Ling LL; Lo, Tsai-Ping TP; Hung, Kuan-Yi KY; You, Jeng-Fu JF; Wang, Wen-Chang WC; Hsiung, Chao A CA; Yeh, Chih-Ching CC

Publication Date: 2016

Variant appearance in text: rs12947788

PubMed Link: 27907203

Variant Present in the following documents:

• Main text
• pone.0167354.pdf

View BVdb publication page

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Genotype and Haplotype Analyses of TP53 Gene in Breast Cancer Patients: Association with Risk and Clinical Outcomes.

Plos One

Vymetalkova, Veronika V; Soucek, Pavel P; Kunicka, Tereza T; Jiraskova, Katerina K; Brynychova, Veronika V; Pardini, Barbara B; Novosadova, Vendula V; Polivkova, Zdena Z; Kubackova, Katerina K; Kozevnikovova, Renata R; Ambrus, Miloslav M; Vodickova, Ludmila L; Naccarati, Alessio A; Vodicka, Pavel P

Publication Date: 2015

Variant appearance in text: rs12947788

PubMed Link: 26226484

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline TP53 mutational spectrum in French Canadians with breast cancer.

Bmc Medical Genetics

Arcand, Suzanna L SL; Akbari, Mohammed R MR; Mes-Masson, Anne-Marie AM; Provencher, Diane D; Foulkes, William D WD; Narod, Steven A SA; Tonin, Patricia N PN

Publication Date: 2015-04-12

Variant appearance in text: TP53: 782+72C>T; rs12947788

PubMed Link: 25925845

Variant Present in the following documents:

• Main text
• 12881_2015_Article_169.pdf

View BVdb publication page

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Linking polymorphic p53 response elements with gene expression in airway epithelial cells of smokers and cancer risk.

Human Genetics

Wang, Xuting X; Pittman, Gary S GS; Bandele, Omari J OJ; Bischof, Jason J JJ; Liu, Gang G; Brothers, John F JF; Spira, Avrum A; Bell, Douglas A DA

Publication Date: 2014-12

Variant appearance in text: rs12947788

PubMed Link: 25179167

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of intron and exon polymorphisms of p53 gene in Iranian patients with gastritis.

Gastroenterology And Hepatology From Bed To Bench

Najjar Sadeghi, Rouhallah R; Sahba, Negar N; Vahedi, Mohsen M; Reza Mohebbi, Seyed S; Reza Zali, Mohammad M

Publication Date: 2013

Variant appearance in text: rs12947788

PubMed Link: 24834287

Variant Present in the following documents:

• Main text

View BVdb publication page

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In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients.

Journal Of Translational Medicine

Lucarelli, Enrico E; Bellotti, Chiara C; Mantelli, Melissa M; Avanzini, Maria Antonietta MA; Maccario, Rita R; Novara, Francesca F; Arrigo, Giulia G; Zuffardi, Orsetta O; Zuntini, Monia M; Pandolfi, Martina M; Sangiorgi, Luca L; Lisini, Daniela D; Donati, Davide D; Duchi, Serena S

Publication Date: 2014-04-09

Variant appearance in text: rs12947788

PubMed Link: 24716831

Variant Present in the following documents:

• Main text
• 1479-5876-12-95.pdf

View BVdb publication page

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P53 and expression of immunological markers may identify early stage thyroid tumors.

Clinical & Developmental Immunology

Marcello, Marjory Alana MA; Morari, Elaine Cristina EC; Cunha, Lucas Leite LL; De Nadai Silva, Aline Carolina AC; Carraro, Dirce Maria DM; Carvalho, André Lopes AL; Soares, Fernando Augusto FA; Vassallo, José J; Ward, Laura Sterian LS

Publication Date: 2013

Variant appearance in text: rs12947788

PubMed Link: 24171036

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular characterization of TP53 gene in human populations exposed to low-dose ionizing radiation.

Biomed Research International

Brasil-Costa, Igor I; Alencar, Dayse O DO; Raiol-Moraes, Milene M; Pessoa, Igor A IA; Brito, Alexandre W M AW; Jati, Schneyder R SR; Santos, Sidney E B SE; Burbano, Rommel M R RM; Ribeiro-dos-Santos, Andrea K C AK

Publication Date: 2013

Variant appearance in text: rs12947788

PubMed Link: 23586029

Variant Present in the following documents:

• Main text

View BVdb publication page

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An identical, complex TP53 mutation arising independently in two unrelated families with diverse cancer profiles: the complexity of interpreting cancer risk in carriers.

Oncogenesis

Pinto, E M EM; Ribeiro, R C RC; Li, J J; Taja-Chayeb, L L; Carrasco, L F LF; de Lourdes Peña-Torres, M M; Vidal-Millán, S S; Maldonado-Mtz, H H; Dueñas-González, A A; McGregor, L L; Zambetti, G P GP

Publication Date: 2012-02-20

Variant appearance in text: rs12947788

PubMed Link: 23552518

Variant Present in the following documents:

• Main text
• oncsis20121a.pdf

View BVdb publication page

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Re-evaluation of the carcinogenic significance of hepatitis B virus integration in hepatocarcinogenesis.

Plos One

Jiang, Suzhen S; Yang, Ziwei Z; Li, Weijie W; Li, Xiaojun X; Wang, Yongfeng Y; Zhang, Jiangbo J; Xu, Chunhui C; Chen, Pei-Jer PJ; Hou, Jinlin J; McCrae, Malcolm A MA; Chen, Xiangmei X; Zhuang, Hui H; Lu, Fengmin F

Publication Date: 2012

Variant appearance in text: rs12947788

PubMed Link: 22962577

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.

The Lancet. Oncology

Zhang, Ben B; Beeghly-Fadiel, Alicia A; Long, Jirong J; Zheng, Wei W

Publication Date: 2011-05

Variant appearance in text: rs12947788

PubMed Link: 21514219

Variant Present in the following documents:

• Main text

View BVdb publication page

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TP53 mutations in Korean patients with non-small cell lung cancer.

Journal Of Korean Medical Science

Lee, Eung Bae EB; Jin, Guang G; Lee, Shin Yup SY; Park, Ji Young JY; Kim, Min Jung MJ; Choi, Jin Eun JE; Jeon, Hyo Sung HS; Cha, Seung Ick SI; Cho, Sukki S; Kim, Chang Ho CH; Park, Tae-In TI; Jung, Tae Hoon TH; Son, Ji-Woong JW; Park, Jae Yong JY

Publication Date: 2010-05

Variant appearance in text: rs12947788

PubMed Link: 20436704

Variant Present in the following documents:

• Main text

View BVdb publication page

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SNP-RFLPing 2: an updated and integrated PCR-RFLP tool for SNP genotyping.

Bmc Bioinformatics

Chang, Hsueh-Wei HW; Cheng, Yu-Huei YH; Chuang, Li-Yeh LY; Yang, Cheng-Hong CH

Publication Date: 2010-04-08

Variant appearance in text: rs12947788

PubMed Link: 20377871

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: 782+72C>T

PubMed Link: 20182602

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common genetic variation in TP53 and risk of human papillomavirus persistence and progression to CIN3/cancer revisited.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Koshiol, Jill J; Hildesheim, Allan A; Gonzalez, Paula P; Bratti, M Concepcion MC; Porras, Carolina C; Schiffman, Mark M; Herrero, Rolando R; Rodriguez, Ana C AC; Wacholder, Sholom S; Yeager, Meredith M; Chanock, Stephen J SJ; Burk, Robert D RD; Wang, Sophia S SS

Publication Date: 2009-05

Variant appearance in text: rs12947788

PubMed Link: 19423538

Variant Present in the following documents:

• Main text

View BVdb publication page

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Quantification of rare allelic variants from pooled genomic DNA.

Nature Methods

Druley, Todd E TE; Vallania, Francesco L M FL; Wegner, Daniel J DJ; Varley, Katherine E KE; Knowles, Olivia L OL; Bonds, Jacqueline A JA; Robison, Sarah W SW; Doniger, Scott W SW; Hamvas, Aaron A; Cole, F Sessions FS; Fay, Justin C JC; Mitra, Robi D RD

Publication Date: 2009-04

Variant appearance in text: rs12947788

PubMed Link: 19252504

Variant Present in the following documents:

• NIHMS92733-supplement-1.pdf

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs12947788

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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