HMGCR c.2457+117T>G

Variant ID: 5-74655498-T-G

NM_000859.2(HMGCR):c.2457+117T>G

This variant was identified in 43 publications

View GRCh38 version.




Publications:


Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association
Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J
Publication Date: 2022-10-04

Variant appearance in text: rs17238540
PubMed Link: 36193932
Variant Present in the following documents:
  • JAH3-11-e025245.pdf
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Pharmacokinetics and Genetic Factors of Atorvastatin in Healthy Korean Subjects.

Frontiers In Genetics
Kim, Serim S; Seo, Jong Do JD; Yun, Yeo-Min YM; Kim, Hanah H; Kim, Tae-Eun TE; Lee, Taeheon T; Lee, Tae-Rim TR; Lee, Jun Hyung JH; Cho, Eun-Hae EH; Ki, Chang-Seok CS
Publication Date: 2022

Variant appearance in text: rs17238540
PubMed Link: 35664336
Variant Present in the following documents:
  • DataSheet1.pdf
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The Association between Single Nucleotide Polymorphisms, including miR-499a Genetic Variants, and Dyslipidemia in Subjects Treated with Pharmacological or Phytochemical Lipid-Lowering Agents.

International Journal Of Molecular Sciences
Giuliani, Angelica A; Montesanto, Alberto A; Matacchione, Giulia G; Graciotti, Laura L; Ramini, Deborah D; Protic, Olga O; Galeazzi, Roberta R; Antonicelli, Roberto R; Tortato, Elena E; Bonfigli, Anna Rita AR; Sabbatinelli, Jacopo J; Olivieri, Fabiola F
Publication Date: 2022-05-17

Variant appearance in text: rs17238540
PubMed Link: 35628426
Variant Present in the following documents:
  • Main text
  • ijms-23-05617.pdf
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A Possible Role for HMG-CoA Reductase Inhibitors and Its Association with HMGCR Genetic Variation in Parkinson's Disease.

International Journal Of Molecular Sciences
Pierzchlińska, Anna A; Droździk, Marek M; Białecka, Monika M
Publication Date: 2021-11-11

Variant appearance in text: rs17238540
PubMed Link: 34830081
Variant Present in the following documents:
  • Main text
  • ijms-22-12198.pdf
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MassARRAY multigene screening combined with LDL-C and sdLDL-C detection for more favorable outcomes in type 2 diabetes mellitus therapy.

Bmc Medical Genomics
Tian, Yong Y; Wang, Junhong J; Liu, Yanxiao Y; Luo, Xiangguang X; Yao, Ziying Z; Wang, Xinjun X; Zhang, Yuanyuan Y; Xu, Cheng C; Zhao, Xiaoyu X
Publication Date: 2021-03-17

Variant appearance in text: rs17238540
PubMed Link: 33731122
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_937.pdf
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Analysis of Comprehensive Pharmacogenomic Profiling of VIP Variants Among the Genetically Isolated Chechen Subpopulation from Jordan.

Pharmacogenomics And Personalized Medicine
Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Hakooz, Nancy M NM; Alghamdi, Mansour A MA; Dajani, Rana B RB
Publication Date: 2020

Variant appearance in text: rs17238540
PubMed Link: 32765042
Variant Present in the following documents:
  • Main text
  • pgpm-13-199.pdf
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Personalised medicine in hypercholesterolaemia: the role of pharmacogenetics in statin therapy.

Annals Of Medicine
Ahangari, Najmeh N; Doosti, Mohammad M; Ghayour Mobarhan, Majid M; Sahebkar, Amirhossein A; Ferns, Gordon A GA; Pasdar, Alireza A
Publication Date: 2020-12

Variant appearance in text: rs17238540
PubMed Link: 32735150
Variant Present in the following documents:
  • Main text
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Genetic drug target validation using Mendelian randomisation.

Nature Communications
Schmidt, Amand F AF; Finan, Chris C; Gordillo-Marañón, Maria M; Asselbergs, Folkert W FW; Freitag, Daniel F DF; Patel, Riyaz S RS; Tyl, Benoît B; Chopade, Sandesh S; Faraway, Rupert R; Zwierzyna, Magdalena M; Hingorani, Aroon D AD
Publication Date: 2020-06-26

Variant appearance in text: rs17238540
PubMed Link: 32591531
Variant Present in the following documents:
  • 41467_2020_16969_MOESM1_ESM.pdf
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Role of Genetic Variations in the Hepatic Handling of Drugs.

International Journal Of Molecular Sciences
Marin, Jose J G JJG; Serrano, Maria A MA; Monte, Maria J MJ; Sanchez-Martin, Anabel A; Temprano, Alvaro G AG; Briz, Oscar O; Romero, Marta R MR
Publication Date: 2020-04-20

Variant appearance in text: rs17238540
PubMed Link: 32326111
Variant Present in the following documents:
  • Main text
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Genome-wide analyses disclose the distinctive HLA architecture and the pharmacogenetic landscape of the Somali population.

Scientific Reports
Ali, Abshir A AA; Aalto, Mikko M; Jonasson, Jon J; Osman, Abdimajid A
Publication Date: 2020-03-27

Variant appearance in text: rs17238540
PubMed Link: 32221414
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_62645.pdf
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Genetic Polymorphisms of Pharmacogenes among the Genetically Isolated Circassian Subpopulation from Jordan.

Journal Of Personalized Medicine
Al-Eitan, Laith N LN; Rababa'h, Doaa M DM; Hakooz, Nancy M NM; Alghamdi, Mansour A MA; Dajani, Rana B RB
Publication Date: 2020-01-06

Variant appearance in text: rs17238540
PubMed Link: 31935801
Variant Present in the following documents:
  • Main text
  • jpm-10-00002.pdf
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Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China.

Molecular Genetics & Genomic Medicine
Zhang, Chan C; Guo, Weiwei W; Cheng, Yujing Y; Li, Qi Q; Yang, Xin X; Dai, Run R; Zhu, Linhao L; Chen, Wanlu W
Publication Date: 2019-05

Variant appearance in text: rs17238540
PubMed Link: 30955239
Variant Present in the following documents:
  • Main text
  • MGG3-7-e574.pdf
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Genetic polymorphisms of pharmacogenomic VIP variants in the Lisu population of southwestern China: A cohort study.

Medicine
Li, Bin B; Wang, Li L; Lei, Lingyu L; Zhang, Mingxiang M; Niu, Fanglin F; Chen, Peng P; Jin, Tianbo T
Publication Date: 2018-09

Variant appearance in text: rs17238540
PubMed Link: 30235667
Variant Present in the following documents:
  • medi-97-e12231.pdf
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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: rs17238540
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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Pharmacogenetic landscape of Metabolic Syndrome components drug response in Tunisia and comparison with worldwide populations.

Plos One
Jmel, Haifa H; Romdhane, Lilia L; Ben Halima, Yosra Y; Hechmi, Meriem M; Naouali, Chokri C; Dallali, Hamza H; Hamdi, Yosr Y; Shan, Jingxuan J; Abid, Abdelmajid A; Jamoussi, Henda H; Trabelsi, Sameh S; Chouchane, Lotfi L; Luiselli, Donata D; Abdelhak, Sonia S; Kefi, Rym R
Publication Date: 2018

Variant appearance in text: rs17238540
PubMed Link: 29652911
Variant Present in the following documents:
  • Main text
  • pone.0194842.pdf
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Pharmacogenetics of Vascular Risk Factors in Alzheimer's Disease.

Journal Of Personalized Medicine
Cacabelos, Ramón R; Meyyazhagan, Arun A; Carril, Juan C JC; Cacabelos, Pablo P; Teijido, Óscar Ó
Publication Date: 2018-01-03

Variant appearance in text: rs17238540
PubMed Link: 29301387
Variant Present in the following documents:
  • Main text
  • jpm-08-00003.pdf
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Pharmacogenetic Foundations of Therapeutic Efficacy and Adverse Events of Statins.

International Journal Of Molecular Sciences
Arrigoni, Elena E; Del Re, Marzia M; Fidilio, Leonardo L; Fogli, Stefano S; Danesi, Romano R; Di Paolo, Antonello A
Publication Date: 2017-01-06

Variant appearance in text: rs17238540
PubMed Link: 28067828
Variant Present in the following documents:
  • Main text
  • ijms-18-00104.pdf
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Pharmacogenomics of statins: understanding susceptibility to adverse effects.

Pharmacogenomics And Personalized Medicine
Kitzmiller, Joseph P JP; Mikulik, Eduard B EB; Dauki, Anees M AM; Murkherjee, Chandrama C; Luzum, Jasmine A JA
Publication Date: 2016

Variant appearance in text: rs17238540
PubMed Link: 27757045
Variant Present in the following documents:
  • Main text
  • pgpm-9-097.pdf
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Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.

Bmc Genetics
Jin, Tianbo T; Shi, Xugang X; Wang, Li L; Wang, Huijuan H; Feng, Tian T; Kang, Longli L
Publication Date: 2016-05-28

Variant appearance in text: rs17238540
PubMed Link: 27233804
Variant Present in the following documents:
  • Main text
  • 12863_2016_Article_379.pdf
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Genetic polymorphisms of pharmacogenomic VIP variants in the lhoba population of southwest China.

International Journal Of Clinical And Experimental Pathology
He, Yongjun Y; Yang, Hua H; Geng, Tingting T; Feng, Tian T; Yuan, Dongya D; Kang, Longli L; Luo, Manling M; Jin, Tianbo T
Publication Date: 2015

Variant appearance in text: rs17238540
PubMed Link: 26722533
Variant Present in the following documents:
  • Main text
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Genetic Polymorphisms Analysis of Pharmacogenomic VIP Variants in Miao Ethnic Group of Southwest China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Jin, Tianbo T; Aikemu, Ainiwaer A; Zhang, Mingxi M; Geng, Tingting T; Feng, Tian T; Kang, Longli L; Luo, Man Lin ML
Publication Date: 2015-12-03

Variant appearance in text: rs17238540
PubMed Link: 26632549
Variant Present in the following documents:
  • Main text
  • medscimonit-21-3769.pdf
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Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.

Bmc Genetics
Wang, Li L; Aikemu, Ainiwaer A; Yibulayin, Ayiguli A; Du, Shuli S; Geng, Tingting T; Wang, Bo B; Zhang, Yuan Y; Jin, Tianbo T; Yang, Jie J
Publication Date: 2015-06-20

Variant appearance in text: rs17238540
PubMed Link: 26091847
Variant Present in the following documents:
  • Main text
  • 12863_2015_Article_232.pdf
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Evidence for Clinical Implementation of Pharmacogenomics in Cardiac Drugs.

Mayo Clinic Proceedings
Kaufman, Amy L AL; Spitz, Jared J; Jacobs, Michael M; Sorrentino, Matthew M; Yuen, Shennin S; Danahey, Keith K; Saner, Donald D; Klein, Teri E TE; Altman, Russ B RB; Ratain, Mark J MJ; O'Donnell, Peter H PH
Publication Date: 2015-06

Variant appearance in text: rs17238540
PubMed Link: 26046407
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China.

Bmc Genetics
Zhang, Jiayi J; Jin, Tianbo T; Yunus, Zulfiya Z; Li, Xiaolan X; Geng, Tingting T; Wang, Hong H; Cui, Yali Y; Chen, Chao C
Publication Date: 2014-09-30

Variant appearance in text: rs17238540
PubMed Link: 25266489
Variant Present in the following documents:
  • Main text
  • 12863_2014_Article_102.pdf
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Evaluation of the effect of genetic variation on the relationship between statins, cardiovascular disease and cancer.

International Journal Of Molecular Epidemiology And Genetics
Desai, Pinkal P; Jay, Allison A; Bock, Cathryn C; Dyson, Gregory G; Okwuosa, Tochukwu T; Simon, Michael S MS
Publication Date: 2013-11-28

Variant appearance in text: rs17238540
PubMed Link: 24319534
Variant Present in the following documents:
  • Main text
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Statin pharmacogenomics: pursuing biomarkers for predicting clinical outcomes.

Discovery Medicine
Kitzmiller, Joseph P JP; Binkley, Philip F PF; Pandey, Saurabh R SR; Suhy, Adam M AM; Baldassarre, Damiano D; Hartmann, Katherine K
Publication Date: 2013-08

Variant appearance in text: rs17238540
PubMed Link: 23911231
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomics and cardiovascular disease.

Current Cardiology Reports
Weeke, Peter P; Roden, Dan M DM
Publication Date: 2013-07

Variant appearance in text: rs17238540
PubMed Link: 23689943
Variant Present in the following documents:
  • Main text
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Chapter 7: Pharmacogenomics.

Plos Computational Biology
Karczewski, Konrad J KJ; Daneshjou, Roxana R; Altman, Russ B RB
Publication Date: 2012

Variant appearance in text: rs17238540
PubMed Link: 23300409
Variant Present in the following documents:
  • Main text
  • pcbi.1002817.pdf
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Genome-wide study of gene variants associated with differential cardiovascular event reduction by pravastatin therapy.

Plos One
Shiffman, Dov D; Trompet, Stella S; Louie, Judy Z JZ; Rowland, Charles M CM; Catanese, Joseph J JJ; Iakoubova, Olga A OA; Kirchgessner, Todd G TG; Westendorp, Rudi G J RG; de Craen, Anton J M AJ; Slagboom, P Eline PE; Buckley, Brendan M BM; Stott, David J DJ; Sattar, Naveed N; Devlin, James J JJ; Packard, Christopher J CJ; Ford, Ian I; Sacks, Frank M FM; Jukema, J Wouter JW
Publication Date: 2012

Variant appearance in text: rs17238540
PubMed Link: 22666496
Variant Present in the following documents:
  • Main text
  • pone.0038240.pdf
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Genetic determinants of response to cardiovascular drugs.

Current Opinion In Cardiology
Wells, Quinn S QS; Delaney, Jessica T JT; Roden, Dan M DM
Publication Date: 2012-05

Variant appearance in text: rs17238540
PubMed Link: 22382501
Variant Present in the following documents:
  • Main text
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Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementation.

Pharmacogenomics
Ong, Frank S FS; Deignan, Joshua L JL; Kuo, Jane Z JZ; Bernstein, Kenneth E KE; Rotter, Jerome I JI; Grody, Wayne W WW; Das, Kingshuk K
Publication Date: 2012-03

Variant appearance in text: rs17238540
PubMed Link: 22380001
Variant Present in the following documents:
  • Main text
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Cardiovascular pharmacogenomics.

Circulation Research
Roden, Dan M DM; Johnson, Julie A JA; Kimmel, Stephen E SE; Krauss, Ronald M RM; Medina, Marisa Wong MW; Shuldiner, Alan A; Wilke, Russell A RA
Publication Date: 2011-09-16

Variant appearance in text: rs17238540
PubMed Link: 21921273
Variant Present in the following documents:
  • Main text
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Functional promoter polymorphisms govern differential expression of HMG-CoA reductase gene in mouse models of essential hypertension.

Plos One
Sonawane, Parshuram J PJ; Sahu, Bhavani S BS; Sasi, Binu K BK; Geedi, Parimala P; Lenka, Govinda G; Mahapatra, Nitish R NR
Publication Date: 2011-01-31

Variant appearance in text: rs17238540
PubMed Link: 21304971
Variant Present in the following documents:
  • Main text
  • pone.0016661.pdf
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Mapping genes that predict treatment outcome in admixed populations.

The Pharmacogenomics Journal
Baye, T M TM; Wilke, R A RA
Publication Date: 2010-12

Variant appearance in text: rs17238540
PubMed Link: 20921971
Variant Present in the following documents:
  • Main text
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Clinical assessment incorporating a personal genome.

Lancet (London, England)
Ashley, Euan A EA; Butte, Atul J AJ; Wheeler, Matthew T MT; Chen, Rong R; Klein, Teri E TE; Dewey, Frederick E FE; Dudley, Joel T JT; Ormond, Kelly E KE; Pavlovic, Aleksandra A; Morgan, Alexander A AA; Pushkarev, Dmitry D; Neff, Norma F NF; Hudgins, Louanne L; Gong, Li L; Hodges, Laura M LM; Berlin, Dorit S DS; Thorn, Caroline F CF; Sangkuhl, Katrin K; Hebert, Joan M JM; Woon, Mark M; Sagreiya, Hersh H; Whaley, Ryan R; Knowles, Joshua W JW; Chou, Michael F MF; Thakuria, Joseph V JV; Rosenbaum, Abraham M AM; Zaranek, Alexander Wait AW; Church, George M GM; Greely, Henry T HT; Quake, Stephen R SR; Altman, Russ B RB
Publication Date: 2010-05-01

Variant appearance in text: rs17238540
PubMed Link: 20435227
Variant Present in the following documents:
  • Main text
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PharmGKB: very important pharmacogene--HMGCR.

Pharmacogenetics And Genomics
Medina, Marisa Wong MW; Sangkuhl, Katrin K; Klein, Teri E TE; Altman, Russ B RB
Publication Date: 2011-02

Variant appearance in text: rs17238540
PubMed Link: 20084049
Variant Present in the following documents:
  • Main text
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The role of HMGCR alternative splicing in statin efficacy.

Trends In Cardiovascular Medicine
Medina, Marisa Wong MW; Krauss, Ronald M RM
Publication Date: 2009-07

Variant appearance in text: rs17238540
PubMed Link: 20005478
Variant Present in the following documents:
  • Main text
View BVdb publication page



The HMG-CoA reductase gene and lipid and lipoprotein levels: the multi-ethnic study of atherosclerosis.

Lipids
Chen, Yi-Chun YC; Chen, Yii-Der I YD; Li, Xiaohui X; Post, Wendy W; Herrington, David D; Polak, Joseph F JF; Rotter, Jerome I JI; Taylor, Kent D KD
Publication Date: 2009-08

Variant appearance in text: rs17238540
PubMed Link: 19554360
Variant Present in the following documents:
  • Main text
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Variants in the HMG-CoA reductase (HMGCR) gene influence component phenotypes in polycystic ovary syndrome.

Fertility And Sterility
Xu, Ning N; Taylor, Kent D KD; Azziz, Ricardo R; Goodarzi, Mark O MO
Publication Date: 2010-06

Variant appearance in text: rs17238540
PubMed Link: 19327767
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common genetic variation in six lipid-related and statin-related genes, statin use and risk of incident nonfatal myocardial infarction and stroke.

Pharmacogenetics And Genomics
Hindorff, Lucia A LA; Lemaitre, Rozenn N RN; Smith, Nicholas L NL; Bis, Joshua C JC; Marciante, Kristin D KD; Rice, Kenneth M KM; Lumley, Thomas T; Enquobahrie, Daniel A DA; Li, Guo G; Heckbert, Susan R SR; Psaty, Bruce M BM
Publication Date: 2008-08

Variant appearance in text: rs17238540
PubMed Link: 18622260
Variant Present in the following documents:
  • Main text
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Alternative splicing of 3-hydroxy-3-methylglutaryl coenzyme A reductase is associated with plasma low-density lipoprotein cholesterol response to simvastatin.

Circulation
Medina, Marisa Wong MW; Gao, Feng F; Ruan, Weiming W; Rotter, Jerome I JI; Krauss, Ronald M RM
Publication Date: 2008-07-22

Variant appearance in text: rs17238540
PubMed Link: 18559695
Variant Present in the following documents:
  • Main text
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Genetic variation at the LDL receptor and HMG-CoA reductase gene loci, lipid levels, statin response, and cardiovascular disease incidence in PROSPER.

Atherosclerosis
Polisecki, Eliana E; Muallem, Hind H; Maeda, Nobuyo N; Peter, Inga I; Robertson, Michele M; McMahon, Alex D AD; Ford, Ian I; Packard, Christopher C; Shepherd, James J; Jukema, J Wouter JW; Westendorp, Rudi G J RG; de Craen, Anton J M AJ; Buckley, Brendan M BM; Ordovas, Jose M JM; Schaefer, Ernst J EJ; ,
Publication Date: 2008-09

Variant appearance in text: rs17238540
PubMed Link: 18261733
Variant Present in the following documents:
  • Main text
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