Publications:

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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: rs2199936

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs2199936

PubMed Link: 35664336

Variant Present in the following documents:

• DataSheet1.pdf

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Early brain injury and cognitive impairment after aneurysmal subarachnoid haemorrhage.

Scientific Reports

Rowland, Matthew J MJ; Garry, Payashi P; Ezra, Martyn M; Corkill, Rufus R; Baker, Ian I; Jezzard, Peter P; Westbrook, Jon J; Douaud, Gwenaëlle G; Pattinson, Kyle T S KTS

Publication Date: 2021-12-01

Variant appearance in text: rs2199936

PubMed Link: 34853362

Variant Present in the following documents:

• Main text
• 41598_2021_Article_2539.pdf

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Early brain injury and cognitive impairment after aneurysmal subarachnoid haemorrhage.

Scientific Reports

Rowland, Matthew J MJ; Garry, Payashi P; Ezra, Martyn M; Corkill, Rufus R; Baker, Ian I; Jezzard, Peter P; Westbrook, Jon J; Douaud, Gwenaëlle G; Pattinson, Kyle T S KTS

Publication Date: 2021-12-01

Variant appearance in text: rs2199936

PubMed Link: 34853362

Variant Present in the following documents:

• Main text
• 41598_2021_Article_2539.pdf

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Sex Differences in Urate Handling.

International Journal Of Molecular Sciences

Halperin Kuhns, Victoria L VL; Woodward, Owen M OM

Publication Date: 2020-06-16

Variant appearance in text: rs2199936

PubMed Link: 32560040

Variant Present in the following documents:

• Main text
• ijms-21-04269.pdf

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Ethnogeographic and inter-individual variability of human ABC transporters.

Human Genetics

Xiao, Qingyang Q; Zhou, Yitian Y; Lauschke, Volker M VM

Publication Date: 2020-05

Variant appearance in text: rs2199936

PubMed Link: 32206879

Variant Present in the following documents:

• Main text
• 439_2020_Article_2150.pdf

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Mendelian randomization study of serum uric acid levels and diabetes risk: evidence from the Dongfeng-Tongji cohort.

Bmj Open Diabetes Research & Care

Keerman, Mulatibieke M; Yang, Fen F; Hu, Hua H; Wang, Jing J; Wang, Fei F; Li, Zhaoyang Z; Yuan, Jing J; Yao, Ping P; Zhang, Xiaomin X; Guo, Huan H; Yang, Handong H; He, Meian M

Publication Date: 2020-02

Variant appearance in text: rs2199936

PubMed Link: 32111716

Variant Present in the following documents:

• bmjdrc-2019-000834supp001.pdf

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Interactions between serum urate-associated genetic variants and sex on gout risk: analysis of the UK Biobank.

Arthritis Research & Therapy

Narang, Ravi K RK; Topless, Ruth R; Cadzow, Murray M; Gamble, Greg G; Stamp, Lisa K LK; Merriman, Tony R TR; Dalbeth, Nicola N

Publication Date: 2019-01-09

Variant appearance in text: rs2199936

PubMed Link: 30626429

Variant Present in the following documents:

• Main text

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Polymorphisms of ABCG2 and SLC22A12 Genes Associated with Gout Risk in Vietnamese Population.

Medicina (Kaunas, Lithuania)

Duong, Nguyen Thuy NT; Ngoc, Nguyen Thy NT; Thang, Nguyen Tran Minh NTM; Phuong, Bach Thi Hoai BTH; Nga, Nguyen Thanh NT; Tinh, Nguyen Doan ND; Quynh, Do Hai DH; Ton, Nguyen Dang ND; Hai, Nong Van NV

Publication Date: 2019-01-07

Variant appearance in text: rs2199936

PubMed Link: 30621105

Variant Present in the following documents:

• Main text
• medicina-55-00008.pdf

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Effects of SLCO1B1 and GATM gene variants on rosuvastatin-induced myopathy are unrelated to high plasma exposure of rosuvastatin and its metabolites.

Acta Pharmacologica Sinica

Bai, Xue X; Zhang, Bin B; Wang, Ping P; Wang, Guan-Lei GL; Li, Jia-Li JL; Wen, Ding-Sheng DS; Long, Xing-Zhen XZ; Sun, Hong-Shuo HS; Liu, Yi-Bin YB; Huang, Min M; Zhong, Shi-Long SL

Publication Date: 2019-04

Variant appearance in text: rs2199936

PubMed Link: 29950617

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reverse Translational Research of ABCG2 (BCRP) in Human Disease and Drug Response.

Clinical Pharmacology And Therapeutics

Brackman, Deanna J DJ; Giacomini, Kathleen M KM

Publication Date: 2018-02

Variant appearance in text: rs2199936

PubMed Link: 29023674

Variant Present in the following documents:

• Main text

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ABCG2 Polymorphism Is Associated with Hyperuricemia in a Study of a Community-Based Korean Cohort.

Journal Of Korean Medical Science

Son, Chang Nam CN; Bang, So Young SY; Kim, Sang Hyon SH; Sung, Yoon Kyoung YK; Bae, Sang Cheol SC; Jun, Jae Bum JB

Publication Date: 2017-09

Variant appearance in text: rs2199936

PubMed Link: 28776340

Variant Present in the following documents:

• Main text

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Replication of Gout/Urate Concentrations GWAS Susceptibility Loci Associated with Gout in a Han Chinese Population.

Scientific Reports

Li, Zhiqiang Z; Zhou, Zhaowei Z; Hou, Xu X; Lu, Dajiang D; Yuan, Xuan X; Lu, Jie J; Wang, Can C; Han, Lin L; Cui, Lingling L; Liu, Zhen Z; Chen, Jianhua J; Cheng, Xiaoyu X; Zhang, Keke K; Ji, Jue J; Jia, Zhaotong Z; Ma, Lidan L; Xin, Ying Y; Liu, Tian T; Yu, Qing Q; Ren, Wei W; Wang, Xuefeng X; Li, Xinde X; Mi, Qing-Sheng QS; Shi, Yongyong Y; Li, Changgui C

Publication Date: 2017-06-22

Variant appearance in text: rs2199936

PubMed Link: 28642574

Variant Present in the following documents:

View BVdb publication page

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Incorporating Concomitant Medications into Genome-Wide Analyses for the Study of Complex Disease and Drug Response.

Frontiers In Genetics

Graham, Hillary T HT; Rotroff, Daniel M DM; Marvel, Skylar W SW; Buse, John B JB; Havener, Tammy M TM; Wilson, Alyson G AG; Wagner, Michael J MJ; Motsinger-Reif, Alison A AA; ,

Publication Date: 2016

Variant appearance in text: rs2199936

PubMed Link: 27775101

Variant Present in the following documents:

• Main text
• fgene-07-00138.pdf

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A genetic risk score is associated with statin-induced low-density lipoprotein cholesterol lowering.

Pharmacogenomics

Leusink, Maarten M; Maitland-van der Zee, Anke H AH; Ding, Bo B; Drenos, Fotios F; van Iperen, Erik Pa EP; Warren, Helen R HR; Caulfield, Mark J MJ; Cupples, L Adrienne LA; Cushman, Mary M; Hingorani, Aroon D AD; Hoogeveen, Ron C RC; Hovingh, G Kees GK; Kumari, Meena M; Lange, Leslie A LA; Munroe, Patricia B PB; Nyberg, Fredrik F; Schreiner, Pamela J PJ; Sivapalaratnam, Suthesh S; de Bakker, Paul Iw PI; de Boer, Anthonius A; Keating, Brendan J BJ; Asselbergs, Folkert W FW; Onland-Moret, N Charlotte NC

Publication Date: 2016-04

Variant appearance in text: rs2199936

PubMed Link: 27045730

Variant Present in the following documents:

• Main text

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Gout in Older Adults: The Atherosclerosis Risk in Communities Study.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences

Burke, Bridget Teevan BT; Köttgen, Anna A; Law, Andrew A; Grams, Morgan M; Baer, Alan N AN; Coresh, Josef J; McAdams-DeMarco, Mara A MA

Publication Date: 2016-04

Variant appearance in text: rs2199936

PubMed Link: 26714568

Variant Present in the following documents:

• Main text

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Serum urate gene associations with incident gout, measured in the Framingham Heart Study, are modified by renal disease and not by body mass index.

Rheumatology International

Reynolds, Richard J RJ; Vazquez, Ana I AI; Srinivasasainagendra, Vinodh V; Klimentidis, Yann C YC; Bridges, S Louis SL; Allison, David B DB; Singh, Jasvinder A JA

Publication Date: 2016-02

Variant appearance in text: rs2199936

PubMed Link: 26427508

Variant Present in the following documents:

• Main text

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Differential Genetic Effects on Statin-Induced Changes Across Low-Density Lipoprotein-Related Measures.

Circulation. Cardiovascular Genetics

Chu, Audrey Y AY; Giulianini, Franco F; Barratt, Bryan J BJ; Ding, Bo B; Nyberg, Fredrik F; Mora, Samia S; Ridker, Paul M PM; Chasman, Daniel I DI

Publication Date: 2015-10

Variant appearance in text: rs2199936

PubMed Link: 26273092

Variant Present in the following documents:

• Main text

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Modulation of genetic associations with serum urate levels by body-mass-index in humans.

Plos One

Huffman, Jennifer E JE; Albrecht, Eva E; Teumer, Alexander A; Mangino, Massimo M; Kapur, Karen K; Johnson, Toby T; Kutalik, Zoltán Z; Pirastu, Nicola N; Pistis, Giorgio G; Lopez, Lorna M LM; Haller, Toomas T; Salo, Perttu P; Goel, Anuj A; Li, Man M; Tanaka, Toshiko T; Dehghan, Abbas A; Ruggiero, Daniela D; Malerba, Giovanni G; Smith, Albert V AV; Nolte, Ilja M IM; Portas, Laura L; Phipps-Green, Amanda A; Boteva, Lora L; Navarro, Pau P; Johansson, Asa A; Hicks, Andrew A AA; Polasek, Ozren O; Esko, Tõnu T; Peden, John F JF; Harris, Sarah E SE; Murgia, Federico F; Wild, Sarah H SH; Tenesa, Albert A; Tin, Adrienne A; Mihailov, Evelin E; Grotevendt, Anne A; Gislason, Gauti K GK; Coresh, Josef J; D'Adamo, Pio P; Ulivi, Sheila S; Vollenweider, Peter P; Waeber, Gerard G; Campbell, Susan S; Kolcic, Ivana I; Fisher, Krista K; Viigimaa, Margus M; Metter, Jeffrey E JE; Masciullo, Corrado C; Trabetti, Elisabetta E; Bombieri, Cristina C; Sorice, Rossella R; Döring, Angela A; Reischl, Eva E; Strauch, Konstantin K; Hofman, Albert A; Uitterlinden, Andre G AG; Waldenberger, Melanie M; Wichmann, H-Erich HE; Davies, Gail G; Gow, Alan J AJ; Dalbeth, Nicola N; Stamp, Lisa L; Smit, Johannes H JH; Kirin, Mirna M; Nagaraja, Ramaiah R; Nauck, Matthias M; Schurmann, Claudia C; Budde, Kathrin K; Farrington, Susan M SM; Theodoratou, Evropi E; Jula, Antti A; Salomaa, Veikko V; Sala, Cinzia C; Hengstenberg, Christian C; Burnier, Michel M; Mägi, Reedik R; Klopp, Norman N; Kloiber, Stefan S; Schipf, Sabine S; Ripatti, Samuli S; Cabras, Stefano S; Soranzo, Nicole N; Homuth, Georg G; Nutile, Teresa T; Munroe, Patricia B PB; Hastie, Nicholas N; Campbell, Harry H; Rudan, Igor I; Cabrera, Claudia C; Haley, Chris C; Franco, Oscar H OH; Merriman, Tony R TR; Gudnason, Vilmundur V; Pirastu, Mario M; Penninx, Brenda W BW; Snieder, Harold H; Metspalu, Andres A; Ciullo, Marina M; Pramstaller, Peter P PP; van Duijn, Cornelia M CM; Ferrucci, Luigi L; Gambaro, Giovanni G; Deary, Ian J IJ; Dunlop, Malcolm G MG; Wilson, James F JF; Gasparini, Paolo P; Gyllensten, Ulf U; Spector, Tim D TD; Wright, Alan F AF; Hayward, Caroline C; Watkins, Hugh H; Perola, Markus M; Bochud, Murielle M; Kao, W H Linda WH; Caulfield, Mark M; Toniolo, Daniela D; Völzke, Henry H; Gieger, Christian C; Köttgen, Anna A; Vitart, Veronique V

Publication Date: 2015

Variant appearance in text: rs2199936

PubMed Link: 25811787

Variant Present in the following documents:

• Main text
• pone.0119752.pdf

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Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response.

Clinical Pharmacology And Therapeutics

Wen, C C CC; Yee, S W SW; Liang, X X; Hoffmann, T J TJ; Kvale, M N MN; Banda, Y Y; Jorgenson, E E; Schaefer, C C; Risch, N N; Giacomini, K M KM

Publication Date: 2015-05

Variant appearance in text: rs2199936

PubMed Link: 25676789

Variant Present in the following documents:

• Main text

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Gout: a review of nonmodifiable and modifiable risk factors.

Rheumatic Diseases Clinics Of North America

MacFarlane, Lindsey A LA; Kim, Seoyoung C SC

Publication Date: 2014-11

Variant appearance in text: rs2199936

PubMed Link: 25437279

Variant Present in the following documents:

• Main text

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Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.

Nature Communications

Postmus, Iris I; Trompet, Stella S; Deshmukh, Harshal A HA; Barnes, Michael R MR; Li, Xiaohui X; Warren, Helen R HR; Chasman, Daniel I DI; Zhou, Kaixin K; Arsenault, Benoit J BJ; Donnelly, Louise A LA; Wiggins, Kerri L KL; Avery, Christy L CL; Griffin, Paula P; Feng, QiPing Q; Taylor, Kent D KD; Li, Guo G; Evans, Daniel S DS; Smith, Albert V AV; de Keyser, Catherine E CE; Johnson, Andrew D AD; de Craen, Anton J M AJ; Stott, David J DJ; Buckley, Brendan M BM; Ford, Ian I; Westendorp, Rudi G J RG; Slagboom, P Eline PE; Sattar, Naveed N; Munroe, Patricia B PB; Sever, Peter P; Poulter, Neil N; Stanton, Alice A; Shields, Denis C DC; O'Brien, Eoin E; Shaw-Hawkins, Sue S; Chen, Y-D Ida YD; Nickerson, Deborah A DA; Smith, Joshua D JD; Dubé, Marie Pierre MP; Boekholdt, S Matthijs SM; Hovingh, G Kees GK; Kastelein, John J P JJ; McKeigue, Paul M PM; Betteridge, John J; Neil, Andrew A; Durrington, Paul N PN; Doney, Alex A; Carr, Fiona F; Morris, Andrew A; McCarthy, Mark I MI; Groop, Leif L; Ahlqvist, Emma E; , ; Bis, Joshua C JC; Rice, Kenneth K; Smith, Nicholas L NL; Lumley, Thomas T; Whitsel, Eric A EA; Stürmer, Til T; Boerwinkle, Eric E; Ngwa, Julius S JS; O'Donnell, Christopher J CJ; Vasan, Ramachandran S RS; Wei, Wei-Qi WQ; Wilke, Russell A RA; Liu, Ching-Ti CT; Sun, Fangui F; Guo, Xiuqing X; Heckbert, Susan R SR; Post, Wendy W; Sotoodehnia, Nona N; Arnold, Alice M AM; Stafford, Jeanette M JM; Ding, Jingzhong J; Herrington, David M DM; Kritchevsky, Stephen B SB; Eiriksdottir, Gudny G; Launer, Leonore J LJ; Harris, Tamara B TB; Chu, Audrey Y AY; Giulianini, Franco F; MacFadyen, Jean G JG; Barratt, Bryan J BJ; Nyberg, Fredrik F; Stricker, Bruno H BH; Uitterlinden, André G AG; Hofman, Albert A; Rivadeneira, Fernando F; Emilsson, Valur V; Franco, Oscar H OH; Ridker, Paul M PM; Gudnason, Vilmundur V; Liu, Yongmei Y; Denny, Joshua C JC; Ballantyne, Christie M CM; Rotter, Jerome I JI; Adrienne Cupples, L L; Psaty, Bruce M BM; Palmer, Colin N A CN; Tardif, Jean-Claude JC; Colhoun, Helen M HM; Hitman, Graham G; Krauss, Ronald M RM; Wouter Jukema, J J; Caulfield, Mark J MJ

Publication Date: 2014-10-28

Variant appearance in text: rs2199936

PubMed Link: 25350695

Variant Present in the following documents:

• Main text
• ncomms6068.pdf

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The genetics of hyperuricaemia and gout.

Nature Reviews. Rheumatology

Reginato, Anthony M AM; Mount, David B DB; Yang, Irene I; Choi, Hyon K HK

Publication Date: 2012-10

Variant appearance in text: rs2199936

PubMed Link: 22945592

Variant Present in the following documents:

• Main text

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A urate gene-by-diuretic interaction and gout risk in participants with hypertension: results from the ARIC study.

Annals Of The Rheumatic Diseases

McAdams-DeMarco, Mara A MA; Maynard, Janet W JW; Baer, Alan N AN; Kao, Linda W LW; Kottgen, Anna A; Coresh, Josef J

Publication Date: 2013-05

Variant appearance in text: rs2199936

PubMed Link: 22753387

Variant Present in the following documents:

• Main text

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Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.

Annals Of Human Genetics

Karns, Rebekah R; Zhang, Ge G; Sun, Guangyun G; Rao Indugula, Subba S; Cheng, Hong H; Havas-Augustin, Dubravka D; Novokmet, Natalija N; Rudan, Dusko D; Durakovic, Zijad Z; Missoni, Sasa S; Chakraborty, Ranajit R; Rudan, Pavao P; Deka, Ranjan R

Publication Date: 2012-03

Variant appearance in text: rs2199936

PubMed Link: 22229870

Variant Present in the following documents:

• Main text

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Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.

Circulation. Cardiovascular Genetics

Yang, Qiong Q; Köttgen, Anna A; Dehghan, Abbas A; Smith, Albert V AV; Glazer, Nicole L NL; Chen, Ming-Huei MH; Chasman, Daniel I DI; Aspelund, Thor T; Eiriksdottir, Gudny G; Harris, Tamara B TB; Launer, Lenore L; Nalls, Michael M; Hernandez, Dena D; Arking, Dan E DE; Boerwinkle, Eric E; Grove, Megan L ML; Li, Man M; Linda Kao, W H WH; Chonchol, Michel M; Haritunians, Talin T; Li, Guo G; Lumley, Thomas T; Psaty, Bruce M BM; Shlipak, Michael M; Hwang, Shih-Jen SJ; Larson, Martin G MG; O'Donnell, Christopher J CJ; Upadhyay, Ashish A; van Duijn, Cornelia M CM; Hofman, Albert A; Rivadeneira, Fernando F; Stricker, Bruno B; Uitterlinden, Andre G AG; Paré, Guillaume G; Parker, Alex N AN; Ridker, Paul M PM; Siscovick, David S DS; Gudnason, Vilmundur V; Witteman, Jacqueline C JC; Fox, Caroline S CS; Coresh, Josef J

Publication Date: 2010-12

Variant appearance in text: rs2199936

PubMed Link: 20884846

Variant Present in the following documents:

• Main text

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Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.

Plos Genetics

Kolz, Melanie M; Johnson, Toby T; Sanna, Serena S; Teumer, Alexander A; Vitart, Veronique V; Perola, Markus M; Mangino, Massimo M; Albrecht, Eva E; Wallace, Chris C; Farrall, Martin M; Johansson, Asa A; Nyholt, Dale R DR; Aulchenko, Yurii Y; Beckmann, Jacques S JS; Bergmann, Sven S; Bochud, Murielle M; Brown, Morris M; Campbell, Harry H; , ; Connell, John J; Dominiczak, Anna A; Homuth, Georg G; Lamina, Claudia C; McCarthy, Mark I MI; , ; Meitinger, Thomas T; Mooser, Vincent V; Munroe, Patricia P; Nauck, Matthias M; Peden, John J; Prokisch, Holger H; Salo, Perttu P; Salomaa, Veikko V; Samani, Nilesh J NJ; Schlessinger, David D; Uda, Manuela M; Völker, Uwe U; Waeber, Gérard G; Waterworth, Dawn D; Wang-Sattler, Rui R; Wright, Alan F AF; Adamski, Jerzy J; Whitfield, John B JB; Gyllensten, Ulf U; Wilson, James F JF; Rudan, Igor I; Pramstaller, Peter P; Watkins, Hugh H; , ; Doering, Angela A; Wichmann, H-Erich HE; , ; Spector, Tim D TD; Peltonen, Leena L; Völzke, Henry H; Nagaraja, Ramaiah R; Vollenweider, Peter P; Caulfield, Mark M; , ; Illig, Thomas T; Gieger, Christian C

Publication Date: 2009-06

Variant appearance in text: rs2199936

PubMed Link: 19503597

Variant Present in the following documents:

• Main text
• pgen.1000504.pdf

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