Publications:

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Targeting EFNA1 suppresses tumor progression via the cMYC-modulated cell cycle and autophagy in esophageal squamous cell carcinoma.

Discover. Oncology

Jiang, Houxiang H; Wang, Shaoxiang S; Liu, Ying Y; Zheng, Chaopan C; Chen, Lipeng L; Zheng, Kai K; Xu, Zhenyu Z; Dai, Yong Y; Jin, Hongtao H; Cheng, Zhiqiang Z; Zou, Chang C; Fu, Li L; Liu, Kaisheng K; Ma, Xiaoshi X

Publication Date: 2023-05-09

Variant appearance in text: rs12904

PubMed Link: 37160815

Variant Present in the following documents:

• Main text
• 12672_2023_Article_664.pdf

View BVdb publication page

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Influence of Genetic Variations in miRNA and Genes Encoding Proteins in the miRNA Synthesis Complex on Toxicity of the Treatment of Pediatric B-Cell ALL in the Brazilian Amazon.

International Journal Of Molecular Sciences

da Silva Menezes, Elisa E; de Moraes, Francisco Cezar Aquino FCA; de Nazaré Cohen-Paes, Amanda A; Wanderley, Alayde Vieira AV; Pereira, Esdras Edgar Batista EEB; Pastana, Lucas Favacho LF; Modesto, Antônio André Conde AAC; de Assumpção, Paulo Pimentel PP; Burbano, Rommel Mario Rodríguez RMR; Dos Santos, Sidney Emanuel Batista SEB; Dos Santos, Ney Pereira Carneiro NPC; Fernandes, Marianne Rodrigues MR

Publication Date: 2023-02-23

Variant appearance in text: rs12904

PubMed Link: 36901860

Variant Present in the following documents:

• Main text
• ijms-24-04431.pdf

View BVdb publication page

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Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.

Jama Network Open

Yang, Wenjian W; Karol, Seth E SE; Hoshitsuki, Keito K; Lee, Shawn S; Larsen, Eric C EC; Winick, Naomi N; Carroll, William L WL; Loh, Mignon L ML; Raetz, Elizabeth A EA; Hunger, Stephen P SP; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Devidas, Meenakshi M; Relling, Mary V MV; Yang, Jun J JJ

Publication Date: 2022-12-01

Variant appearance in text: rs12904

PubMed Link: 36580335

Variant Present in the following documents:

• jamanetwopen-e2248803-s001.pdf

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs12904

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

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

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs12904

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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Association between SNPs in microRNAs and microRNAs-Machinery Genes with Susceptibility of Leprosy in the Amazon Population.

International Journal Of Molecular Sciences

da Silva, Mayara Natália Santana MNS; da Veiga Borges Leal, Diana Feio DF; Sena, Camille C; Pinto, Pablo P; Gobbo, Angélica Rita AR; da Silva, Moises Batista MB; Salgado, Claudio Guedes CG; Dos Santos, Ney Pereira Carneiro NPC; Dos Santos, Sidney Emanuel Batista SEB

Publication Date: 2022-09-13

Variant appearance in text: rs12904

PubMed Link: 36142557

Variant Present in the following documents:

• Main text
• ijms-23-10628.pdf

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs12904

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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EFNA1 in gastrointestinal cancer: Expression, regulation and clinical significance.

World Journal Of Gastrointestinal Oncology

Chu, Ling-Yu LY; Huang, Bin-Liang BL; Huang, Xu-Chun XC; Peng, Yu-Hui YH; Xie, Jian-Jun JJ; Xu, Yi-Wei YW

Publication Date: 2022-05-15

Variant appearance in text: rs12904

PubMed Link: 35646281

Variant Present in the following documents:

• WJGO-14-973.pdf

View BVdb publication page

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The Pan-Cancer Crosstalk Between the EFNA Family and Tumor Microenvironment for Prognosis and Immunotherapy of Gastric Cancer.

Frontiers In Cell And Developmental Biology

Xie, Rongrong R; Yuan, Mengping M; Jiang, Yiyan Y

Publication Date: 2022

Variant appearance in text: rs12904

PubMed Link: 35309935

Variant Present in the following documents:

• Main text
• fcell-10-790947.pdf

View BVdb publication page

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Pleiotropic Effects of Functional MUC1 Variants on Cardiometabolic, Renal, and Hematological Traits in the Taiwanese Population.

International Journal Of Molecular Sciences

Teng, Ming-Sheng MS; Wu, Semon S; Hsu, Lung-An LA; Chou, Hsin-Hua HH; Ko, Yu-Lin YL

Publication Date: 2021-09-30

Variant appearance in text: rs12904

PubMed Link: 34638981

Variant Present in the following documents:

• Main text
• ijms-22-10641.pdf

View BVdb publication page

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Association Between Polymorphisms in Gastric Cancer Related Genes and Risk of Gastric Cancer: A Case-Control Study.

Frontiers In Molecular Biosciences

Pu, Yan Y; Wen, Xu X; Jia, Zhangjun Z; Xie, Yu Y; Luan, Changxing C; Yu, Youjia Y; Chen, Feng F; Chen, Peng P; Li, Ding D; Sun, Yan Y; Zhao, Jian J; Lv, Haiqin H

Publication Date: 2021

Variant appearance in text: rs12904

PubMed Link: 34079823

Variant Present in the following documents:

• Main text
• fmolb-08-690665.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs12904

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.

Nature Communications

Chen, Vincent L VL; Du, Xiaomeng X; Chen, Yanhua Y; Kuppa, Annapurna A; Handelman, Samuel K SK; Vohnoutka, Rishel B RB; Peyser, Patricia A PA; Palmer, Nicholette D ND; Bielak, Lawrence F LF; Halligan, Brian B; Speliotes, Elizabeth K EK

Publication Date: 2021-02-05

Variant appearance in text: rs12904

PubMed Link: 33547301

Variant Present in the following documents:

• 41467_2020_20870_MOESM1_ESM.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs12904

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications

Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K

Publication Date: 2020-12-18

Variant appearance in text: rs12904

PubMed Link: 33339817

Variant Present in the following documents:

• 41467_2020_20086_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Single Nucleotide Variants Associated with Colorectal Cancer Among Iranian Patients: A Narrative Review.

Pharmacogenomics And Personalized Medicine

Jamshidi, Mohammad M; Mohammadi Pour, Somayeh S; Mahmoudian-Sani, Mohammad-Reza MR

Publication Date: 2020

Variant appearance in text: rs12904

PubMed Link: 32581566

Variant Present in the following documents:

• Main text
• pgpm-13-167.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs12904

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Tumor Necrosis Factor Alpha-Induced Proteins in Malignant Tumors: Progress and Prospects.

Oncotargets And Therapy

Guo, Fang F; Yuan, Yuan Y

Publication Date: 2020

Variant appearance in text: rs12904

PubMed Link: 32368089

Variant Present in the following documents:

• Main text
• ott-13-3303.pdf

View BVdb publication page

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MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine

Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM

Publication Date: 2019-12

Variant appearance in text: rs12904

PubMed Link: 31637880

Variant Present in the following documents:

• Main text
• CAM4-8-7477.pdf

View BVdb publication page

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A functional variant rs12904 in the miR-200c binding site was associated with a decreased risk of ischemic stroke.

Lipids In Health And Disease

Zeng, Zhi-Neng ZN; Liu, Ling-Ling LL; He, Yong-Ling YL; Shi, Xiang X; Wei, Ye-Sheng YS

Publication Date: 2019-05-10

Variant appearance in text: rs12904

PubMed Link: 31077198

Variant Present in the following documents:

• Main text
• 12944_2019_Article_1060.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs12904

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

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: rs12904

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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: rs12904

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs12904

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Role of miRNAs and their potential to be useful as diagnostic and prognostic biomarkers in gastric cancer.

World Journal Of Gastroenterology

da Silva Oliveira, Kelly Cristina KC; Thomaz Araújo, Taíssa Maíra TM; Albuquerque, Camila Inagaki CI; Barata, Gabriela Alcantara GA; Gigek, Carolina Oliveira CO; Leal, Mariana Ferreira MF; Wisnieski, Fernanda F; Rodrigues Mello Junior, Fernando Augusto FA; Khayat, André Salim AS; de Assumpção, Paulo Pimentel PP; Rodriguez Burbano, Rommel Mário RM; Smith, Marília Cardoso MC; Calcagno, Danielle Queiroz DQ

Publication Date: 2016-09-21

Variant appearance in text: rs12904

PubMed Link: 27672290

Variant Present in the following documents:

• Main text
• WJG-22-7951.pdf

View BVdb publication page

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Synaptic Plasticity and Signal Transduction Gene Polymorphisms and Vulnerability to Drug Addictions in Populations of European or African Ancestry.

Cns Neuroscience & Therapeutics

Levran, Orna O; Peles, Einat E; Randesi, Matthew M; Correa da Rosa, Joel J; Ott, Jurg J; Rotrosen, John J; Adelson, Miriam M; Kreek, Mary Jeanne MJ

Publication Date: 2015-11

Variant appearance in text: rs12904

PubMed Link: 26384852

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of alcohol dehydrogenase gene 4 polymorphisms on esophageal squamous cell carcinoma risk in a Chinese population.

Plos One

Xu, Xiaoling X; Wang, Jiwen J; Zhu, Shuang-Mei SM; Yang, Ming M; Fang, Yun Y; Zhao, An A; Song, Qian Q; Mao, Weimin W

Publication Date: 2015

Variant appearance in text: rs12904

PubMed Link: 26039424

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants and risk of gastric cancer: a pathway analysis of a genome-wide association study.

Springerplus

Lee, Ju-Han JH; Kim, Younghye Y; Choi, Jung-Woo JW; Kim, Young-Sik YS

Publication Date: 2015

Variant appearance in text: rs12904

PubMed Link: 25992311

Variant Present in the following documents:

• Main text
• 40064_2015_Article_1005.pdf

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs12904

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs12904

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Genetic variants in microRNA target sites of 37 selected cancer-related genes and the risk of cervical cancer.

Plos One

Mi, Yang Y; Wang, Lijuan L; Zong, Lu L; Pei, Meili M; Lu, Qingyang Q; Huang, Pu P

Publication Date: 2014

Variant appearance in text: rs12904

PubMed Link: 24465869

Variant Present in the following documents:

• Main text
• pone.0086061.pdf

View BVdb publication page

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Prioritization of genetic variants in the microRNA regulome as functional candidates in genome-wide association studies.

Human Mutation

Bulik-Sullivan, Brendan B; Selitsky, Sara S; Sethupathy, Praveen P

Publication Date: 2013-08

Variant appearance in text: rs12904

PubMed Link: 23595788

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparative analysis of radon, thoron and thoron progeny concentration measurements.

Journal Of Radiation Research

Janik, Miroslaw M; Tokonami, Shinji S; Kranrod, Chutima C; Sorimachi, Atsuyuki A; Ishikawa, Tetsuo T; Hosoda, Masahiro M; McLaughlin, James J; Chang, Byung-Uck BU; Kim, Yong Jae YJ

Publication Date: 2013-07-01

Variant appearance in text: rs12904

PubMed Link: 23297318

Variant Present in the following documents:

• Main text

View BVdb publication page

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