VDR c.-83-4108G>A

Variant ID: 12-48280665-C-T

NM_000376.3(VDR):c.-83-4108G>A

This variant was identified in 37 publications

View GRCh38 version.




Publications:


Serum 25-Hydroxy Vitamin D Levels and Association of Vitamin D Receptor Gene Polymorphisms in Vitiligo.

Journal Of Korean Medical Science
Kim, Tae-Eun TE; Kim, Su Kang SK; Shin, Min Kyung MK; Jeong, Ki-Heon KH; Lee, Mu-Hyoung MH
Publication Date: 2022-04-11

Variant appearance in text: rs4760648
PubMed Link: 35411730
Variant Present in the following documents:
  • jkms-37-e110.pdf
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Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review.

Nutrients
Krasniqi, Ermira E; Boshnjaku, Arben A; Wagner, Karl-Heinz KH; Wessner, Barbara B
Publication Date: 2021-09-04

Variant appearance in text: rs4760648
PubMed Link: 34578986
Variant Present in the following documents:
  • Main text
  • nutrients-13-03109.pdf
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Vitamin D pathway-related gene polymorphisms and their association with metabolic diseases: A literature review.

Journal Of Diabetes And Metabolic Disorders
Alathari, Buthaina E BE; Sabta, Aji A AA; Kalpana, Chinnappan A CA; Vimaleswaran, Karani Santhanakrishnan KS
Publication Date: 2020-12

Variant appearance in text: rs4760648
PubMed Link: 33553043
Variant Present in the following documents:
  • Main text
  • 40200_2020_Article_561.pdf
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Association between vitamin D receptor genetic polymorphisms and haplotypes and risk of lumbar degenerative disc disease in a Chinese population.

International Journal Of Clinical And Experimental Pathology
Fang, Yu Y; Yu, Bin B; Yang, Yong Y; Liu, Gang G; Tu, Su Yi La SY
Publication Date: 2017

Variant appearance in text: rs4760648
PubMed Link: 31966727
Variant Present in the following documents:
  • Main text
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Germline Polymorphisms in the Nuclear Receptors PXR and VDR as Novel Prognostic Markers in Metastatic Colorectal Cancer Patients Treated With FOLFIRI.

Frontiers In Oncology
De Mattia, Elena E; Polesel, Jerry J; Roncato, Rossana R; Labriet, Adrien A; Bignucolo, Alessia A; Dreussi, Eva E; Romanato, Loredana L; Guardascione, Michela M; Buonadonna, Angela A; D'Andrea, Mario M; Lévesque, Eric E; Jonker, Derek D; Couture, Félix F; Guillemette, Chantal C; Cecchin, Erika E; Toffoli, Giuseppe G
Publication Date: 2019

Variant appearance in text: rs4760648
PubMed Link: 31850208
Variant Present in the following documents:
  • Main text
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Polymorphisms of genes related to vitamin D metabolism and transportation and its relationship with the risk of osteoporosis: protocol for a multicentre prospective cohort study in China.

Bmj Open
Wang, Jing J; Shu, Bing B; Li, Chen-Guang CG; Xie, Xing-Wen XW; Liang, De ; Chen, Bo-Lai BL; Lin, Xin-Chao XC; Wei, Xu X; Wang, Liang L; Leng, Xiang-Yang XY; Zhou, Ying-Jie YJ; Chen, Pei-Zhan PZ; Tao, Yu-Ren YR; Zhou, Yong Y; Zhang, Yan Y; Cui, Xue-Jun XJ; Lu, Sheng S; Wang, Hui H; Shi, Qi Q; Wang, Yong-Jun YJ
Publication Date: 2019-11-24

Variant appearance in text: rs4760648
PubMed Link: 31767578
Variant Present in the following documents:
  • Main text
  • bmjopen-2018-028084.pdf
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VDR polymorphisms influence immunological response in HIV-1+ individuals undergoing antiretroviral therapy.

Genetics And Molecular Biology
Silva, Ronaldo Celerino da RCD; Alves, Neyla Maria Pereira NMP; Pereira, Jorge José de Souza JJS; Coelho, Antonio Victor Campos AVC; Arraes, Luiz Cláudio LC; Brandão, Lucas André Cavalcanti LAC; Crovella, Sergio S; Silva, Jaqueline de Azevêdo JA
Publication Date: 2019

Variant appearance in text: rs4760648
PubMed Link: 31259360
Variant Present in the following documents:
  • Main text
  • 1415-4757-GMB-1678-4685-GMB-2017-0289.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: rs4760648
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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Association of STAT-3 rs1053004 and VDR rs11574077 With FOLFIRI-Related Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients.

Frontiers In Pharmacology
De Mattia, Elena E; Cecchin, Erika E; Montico, Marcella M; Labriet, Adrien A; Guillemette, Chantal C; Dreussi, Eva E; Roncato, Rossana R; Bignucolo, Alessia A; Buonadonna, Angela A; D'Andrea, Mario M; Coppola, Luigi L; Lonardi, Sara S; Lévesque, Eric E; Jonker, Derek D; Couture, Félix F; Toffoli, Giuseppe G
Publication Date: 2018

Variant appearance in text: rs4760648
PubMed Link: 29706892
Variant Present in the following documents:
  • Main text
  • fphar-09-00367.pdf
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Vitamin D receptor and calcium-sensing receptor polymorphisms and colorectal cancer survival in the Newfoundland population.

British Journal Of Cancer
Zhu, Yun Y; Wang, Peizhong Peter PP; Zhai, Guangju G; Bapat, Bharati B; Savas, Sevtap S; Woodrow, Jennifer R JR; Sharma, Ishor I; Li, Yuming Y; Zhou, Xin X; Yang, Ning N; Campbell, Peter T PT; Dicks, Elizabeth E; Parfrey, Patrick S PS; Mclaughlin, John R JR
Publication Date: 2017-09-05

Variant appearance in text: rs4760648
PubMed Link: 28765616
Variant Present in the following documents:
  • Main text
  • bjc2017242x1.pdf
  • bjc2017242a.pdf
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Inherited Variation in Vitamin D Genes and Type 1 Diabetes Predisposition.

Genes
Penna-Martinez, Marissa M; Badenhoop, Klaus K
Publication Date: 2017-04-20

Variant appearance in text: rs4760648
PubMed Link: 28425954
Variant Present in the following documents:
  • Main text
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No prognostic value added by vitamin D pathway SNPs to current prognostic system for melanoma survival.

Plos One
Luo, Li L; Orlow, Irene I; Kanetsky, Peter A PA; Thomas, Nancy E NE; Fang, Shenying S; Lee, Jeffrey E JE; Berwick, Marianne M; Lee, Ji-Hyun JH; ,
Publication Date: 2017

Variant appearance in text: rs4760648
PubMed Link: 28323902
Variant Present in the following documents:
  • Main text
  • pone.0174234.pdf
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Vitamin D Receptor Gene Polymorphism and the Risk of Colorectal Cancer: A Nested Case-Control Study.

Plos One
Budhathoki, Sanjeev S; Yamaji, Taiki T; Iwasaki, Motoki M; Sawada, Norie N; Shimazu, Taichi T; Sasazuki, Shizuka S; Yoshida, Teruhiko T; Tsugane, Shoichiro S
Publication Date: 2016

Variant appearance in text: rs4760648
PubMed Link: 27736940
Variant Present in the following documents:
  • Main text
  • pone.0164648.pdf
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Vitamin D Receptor Gene Polymorphisms Are Associated with Abdominal Visceral Adipose Tissue Volume and Serum Adipokine Concentrations but Not with Body Mass Index or Waist Circumference in African Americans: The Jackson Heart Study.

The Journal Of Nutrition
Khan, Rumana J RJ; Riestra, Pia P; Gebreab, Samson Y SY; Wilson, James G JG; Gaye, Amadou A; Xu, Ruihua R; Davis, Sharon K SK
Publication Date: 2016-08

Variant appearance in text: rs4760648
PubMed Link: 27358421
Variant Present in the following documents:
  • Main text
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Prediagnostic Plasma 25-Hydroxyvitamin D and Pancreatic Cancer Survival.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Yuan, Chen C; Qian, Zhi Rong ZR; Babic, Ana A; Morales-Oyarvide, Vicente V; Rubinson, Douglas A DA; Kraft, Peter P; Ng, Kimmie K; Bao, Ying Y; Giovannucci, Edward L EL; Ogino, Shuji S; Stampfer, Meir J MJ; Gaziano, John Michael JM; Sesso, Howard D HD; Buring, Julie E JE; Cochrane, Barbara B BB; Chlebowski, Rowan T RT; Snetselaar, Linda G LG; Manson, JoAnn E JE; Fuchs, Charles S CS; Wolpin, Brian M BM
Publication Date: 2016-08-20

Variant appearance in text: rs4760648
PubMed Link: 27325858
Variant Present in the following documents:
  • Main text
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Vitamin D receptor polymorphisms and survival in patients with cutaneous melanoma: a population-based study.

Carcinogenesis
Orlow, Irene I; Reiner, Anne S AS; Thomas, Nancy E NE; Roy, Pampa P; Kanetsky, Peter A PA; Luo, Li L; Paine, Susan S; Armstrong, Bruce K BK; Kricker, Anne A; Marrett, Loraine D LD; Rosso, Stefano S; Zanetti, Roberto R; Gruber, Stephen B SB; Anton-Culver, Hoda H; Gallagher, Richard P RP; Dwyer, Terence T; Busam, Klaus K; Begg, Colin B CB; Berwick, Marianne M; ,
Publication Date: 2016-01

Variant appearance in text: rs4760648
PubMed Link: 26521212
Variant Present in the following documents:
  • Main text
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Interaction of HLA-DRB1*1501 and TNF-Alpha in a Population-based Case-control Study of Multiple Sclerosis.

Immunology And Infectious Diseases
Williamson, Dhelia M DM; Marrie, Ruth Ann RA; Ashley-Koch, Allison A; Satten, Glen A GA
Publication Date: 2013-09

Variant appearance in text: rs4760648
PubMed Link: 25741530
Variant Present in the following documents:
  • Main text
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Circulating vitamin D, vitamin D-related genetic variation, and risk of fatal prostate cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium.

Cancer
Shui, Irene M IM; Mondul, Alison M AM; Lindström, Sara S; Tsilidis, Konstantinos K KK; Travis, Ruth C RC; Gerke, Travis T; Albanes, Demetrius D; Mucci, Lorelei A LA; Giovannucci, Edward E; Kraft, Peter P; ,
Publication Date: 2015-06-15

Variant appearance in text: rs4760648
PubMed Link: 25731953
Variant Present in the following documents:
  • Main text
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Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions.

Archives Of Environmental & Occupational Health
Napier, Melanie D MD; Poole, Charles C; Satten, Glen A GA; Ashley-Koch, Allison A; Marrie, Ruth Ann RA; Williamson, Dhelia M DM
Publication Date: 2016

Variant appearance in text: rs4760648
PubMed Link: 25137520
Variant Present in the following documents:
  • Main text
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Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations.

Current Genomics
J, De Azevêdo Silva de AS; C, Addobbati A; P, Sandrin-Garcia SG; S, Crovella C
Publication Date: 2014-02

Variant appearance in text: rs4760648
PubMed Link: 24653663
Variant Present in the following documents:
  • Main text
  • CG-15-52.pdf
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Candidate gene analysis in israeli soldiers with stress fractures.

Journal Of Sports Science & Medicine
Yanovich, Ran R; Friedman, Eitan E; Milgrom, Roni R; Oberman, Bernice B; Freedman, Laurence L; Moran, Daniel S DS
Publication Date: 2012

Variant appearance in text: rs4760648
PubMed Link: 24149131
Variant Present in the following documents:
  • Main text
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Genetic association analysis of vitamin D pathway with obesity traits.

International Journal Of Obesity (2005)
Vimaleswaran, K S KS; Cavadino, A A; Berry, D J DJ; , ; Whittaker, J C JC; Power, C C; Järvelin, M-R MR; Hyppönen, E E
Publication Date: 2013-10

Variant appearance in text: rs4760648
PubMed Link: 23381556
Variant Present in the following documents:
  • Main text
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Candidate gene linkage approach to identify DNA variants that predispose to preterm birth.

Pediatric Research
Bream, Elise N A EN; Leppellere, Cara R CR; Cooper, Margaret E ME; Dagle, John M JM; Merrill, David C DC; Christensen, Kaare K; Simhan, Hyagriv N HN; Fong, Chin-To CT; Hallman, Mikko M; Muglia, Louis J LJ; Marazita, Mary L ML; Murray, Jeffrey C JC
Publication Date: 2013-02

Variant appearance in text: rs4760648
PubMed Link: 23168575
Variant Present in the following documents:
  • Main text
  • nihms447458.pdf
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A population-based study of hedgehog pathway gene variants in relation to the dual risk of basal cell carcinoma plus another cancer.

Cancer Epidemiology
Jorgensen, Timothy J TJ; Ruczinski, Ingo I; Yao Shugart, Yin Y; Wheless, Lee L; Berthier Schaad, Yvette Y; Kessing, Bailey B; Hoffman-Bolton, Judith J; Helzlsouer, Kathy J KJ; Kao, W H Linda WH; Francis, Lesley L; Alani, Rhoda M RM; Strickland, Paul T PT; Smith, Michael W MW; Alberg, Anthony J AJ
Publication Date: 2012-10

Variant appearance in text: rs4760648
PubMed Link: 22677152
Variant Present in the following documents:
  • Main text
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Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration.

Human Genomics
Morrison, Margaux A MA; Silveira, Alexandra C AC; Huynh, Nancy N; Jun, Gyungah G; Smith, Silvia E SE; Zacharaki, Fani F; Sato, Hajime H; Loomis, Stephanie S; Andreoli, Michael T MT; Adams, Scott M SM; Radeke, Monte J MJ; Jelcick, Austin S AS; Yuan, Yang Y; Tsiloulis, Aristoteles N AN; Chatzoulis, Dimitrios Z DZ; Silvestri, Giuliana G; Kotoula, Maria G MG; Tsironi, Evangelia E EE; Hollis, Bruce W BW; Chen, Rui R; Haider, Neena B NB; Miller, Joan W JW; Farrer, Lindsay A LA; Hageman, Gregory S GS; Kim, Ivana K IK; Schaumberg, Debra A DA; DeAngelis, Margaret M MM
Publication Date: 2011-10

Variant appearance in text: rs4760648
PubMed Link: 22155603
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-538.pdf
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Pathway-Targeted Pharmacogenomics of CYP1A2 in Human Liver.

Frontiers In Pharmacology
Klein, Kathrin K; Winter, Stefan S; Turpeinen, Miia M; Schwab, Matthias M; Zanger, Ulrich M UM
Publication Date: 2010

Variant appearance in text: rs4760648
PubMed Link: 21918647
Variant Present in the following documents:
  • Main text
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Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers.

American Journal Of Medical Genetics. Part A
Swamy, Geeta K GK; Garrett, Melanie E ME; Miranda, Marie Lynn ML; Ashley-Koch, Allison E AE
Publication Date: 2011-06

Variant appearance in text: rs4760648
PubMed Link: 21548019
Variant Present in the following documents:
  • Main text
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Vitamin D receptor polymorphisms in patients with cutaneous melanoma.

International Journal Of Cancer
Orlow, Irene I; Roy, Pampa P; Reiner, Anne S AS; Yoo, Sarah S; Patel, Himali H; Paine, Susan S; Armstrong, Bruce K BK; Kricker, Anne A; Marrett, Loraine D LD; Millikan, Robert C RC; Thomas, Nancy E NE; Gruber, Stephen B SB; Anton-Culver, Hoda H; Rosso, Stefano S; Gallagher, Richard P RP; Dwyer, Terence T; Kanetsky, Peter A PA; Busam, Klaus K; From, Lynn L; Begg, Colin B CB; Berwick, Marianne M; ,
Publication Date: 2012-01-15

Variant appearance in text: rs4760648
PubMed Link: 21365644
Variant Present in the following documents:
  • Main text
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Vitamin D receptor gene as a candidate gene for Parkinson disease.

Annals Of Human Genetics
Butler, Megan W MW; Burt, Amber A; Edwards, Todd L TL; Zuchner, Stephan S; Scott, William K WK; Martin, Eden R ER; Vance, Jeffery M JM; Wang, Liyong L
Publication Date: 2011-03

Variant appearance in text: rs4760648
PubMed Link: 21309754
Variant Present in the following documents:
  • Main text
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Vitamin D receptor gene polymorphisms are associated with adiposity phenotypes.

The American Journal Of Clinical Nutrition
Ochs-Balcom, Heather M HM; Chennamaneni, Raj R; Millen, Amy E AE; Shields, Peter G PG; Marian, Catalin C; Trevisan, Maurizio M; Freudenheim, Jo L JL
Publication Date: 2011-01

Variant appearance in text: rs4760648
PubMed Link: 21048058
Variant Present in the following documents:
  • Main text
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Genetic variation in the vitamin D receptor (VDR) and the vitamin D-binding protein (GC) and risk for colorectal cancer: results from the Colon Cancer Family Registry.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Poynter, Jenny N JN; Jacobs, Elizabeth T ET; Figueiredo, Jane C JC; Lee, Won H WH; Conti, David V DV; Campbell, Peter T PT; Levine, A Joan AJ; Limburg, Paul P; Le Marchand, Loic L; Cotterchio, Michelle M; Newcomb, Polly A PA; Potter, John D JD; Jenkins, Mark A MA; Hopper, John L JL; Duggan, David J DJ; Baron, John A JA; Haile, Robert W RW
Publication Date: 2010-02

Variant appearance in text: rs4760648
PubMed Link: 20086113
Variant Present in the following documents:
  • Main text
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Vitamin d pathway genes, diet, and risk of renal cell carcinoma.

International Journal Of Endocrinology
Karami, S S; Brennan, P P; Navratilova, M M; Mates, D D; Zaridze, D D; Janout, V V; Kollarova, H H; Bencko, V V; Matveev, V V; Szesznia-Dabrowska, N N; Holcatova, I I; Yeager, M M; Chanock, S S; Rothman, N N; Boffetta, P P; Chow, W-H WH; Moore, L E LE
Publication Date: 2010

Variant appearance in text: rs4760648
PubMed Link: 20049159
Variant Present in the following documents:
  • Main text
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Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.

Genes And Immunity
Howson, J M M JM; Walker, N M NM; Smyth, D J DJ; Todd, J A JA; ,
Publication Date: 2009-12

Variant appearance in text: rs4760648
PubMed Link: 19956106
Variant Present in the following documents:
  • Main text
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Association analyses of the vitamin D receptor gene in 1654 families with type I diabetes.

Genes And Immunity
Kahles, H H; Morahan, G G; Todd, J A JA; Badenhoop, K K; ,
Publication Date: 2009-12

Variant appearance in text: rs4760648
PubMed Link: 19956103
Variant Present in the following documents:
  • Main text
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Overview of the Rapid Response data.

Genes And Immunity
Brown, W M WM; Pierce, J J JJ; Hilner, J E JE; Perdue, L H LH; Lohman, K K; Lu, L L; de Bakker, P I W PI; Irenze, K K; Ziaugra, L L; Mirel, D B DB; ,
Publication Date: 2009-12

Variant appearance in text: rs4760648
PubMed Link: 19956101
Variant Present in the following documents:
  • Main text
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Analysis of SNPs and haplotypes in vitamin D pathway genes and renal cancer risk.

Plos One
Karami, Sara S; Brennan, Paul P; Rosenberg, Philip S PS; Navratilova, Marie M; Mates, Dana D; Zaridze, David D; Janout, Vladimir V; Kollarova, Helena H; Bencko, Vladimir V; Matveev, Vsevolod V; Szeszenia-Dabrowska, Neonila N; Holcatova, Ivana I; Yeager, Meredith M; Chanock, Stephen S; Menashe, Idan I; Rothman, Nathaniel N; Chow, Wong-Ho WH; Boffetta, Paolo P; Moore, Lee E LE
Publication Date: 2009-09-15

Variant appearance in text: rs4760648
PubMed Link: 19753122
Variant Present in the following documents:
  • Main text
  • pone.0007013.pdf
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Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.

The Journal Of Clinical Endocrinology And Metabolism
Engelman, Corinne D CD; Fingerlin, Tasha E TE; Langefeld, Carl D CD; Hicks, Pamela J PJ; Rich, Stephen S SS; Wagenknecht, Lynne E LE; Bowden, Donald W DW; Norris, Jill M JM
Publication Date: 2008-09

Variant appearance in text: rs4760648
PubMed Link: 18593774
Variant Present in the following documents:
  • Main text
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