VDR c.-2-816C>T

Variant ID: 12-48273714-G-A

NM_000376.2(VDR):c.-2-816C>T

This variant was identified in 36 publications

View GRCh38 version.




Publications:


Assessing the effect of interaction between gut microbiome and inflammatory bowel disease on the risks of depression.

Brain, Behavior, & Immunity - Health
Qin, Xiaoyue X; Pan, Chuyu C; Cai, Qingqing Q; Zhao, Yijing Y; He, Dan D; Wei, Wenming W; Zhang, Na N; Shi, Sirong S; Chu, Xiaoge X; Zhang, Feng F
Publication Date: 2022-12

Variant appearance in text: rs2254210
PubMed Link: 36457826
Variant Present in the following documents:
  • Main text
  • main.pdf
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Heritability Estimation of Multiple Sclerosis Related Plasma Protein Levels in Sardinian Families with Immunochip Genotyping Data.

Life (Basel, Switzerland)
Nova, Andrea A; Baldrighi, Giulia Nicole GN; Fazia, Teresa T; Graziano, Francesca F; Saddi, Valeria V; Piras, Marialuisa M; Beecham, Ashley A; McCauley, Jacob L JL; Bernardinelli, Luisa L
Publication Date: 2022-07-21

Variant appearance in text: rs2254210
PubMed Link: 35888189
Variant Present in the following documents:
  • Main text
  • life-12-01101.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: rs2254210
PubMed Link: 34578986
Variant Present in the following documents:
  • Main text
  • nutrients-13-03109.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: rs2254210
PubMed Link: 31966727
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: rs2254210
PubMed Link: 31767578
Variant Present in the following documents:
  • Main text
  • bmjopen-2018-028084.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: rs2254210
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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Single-Nucleotide Polymorphisms in Vitamin D-Related Genes May Modify Vitamin D-Breast Cancer Associations.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
O'Brien, Katie M KM; Sandler, Dale P DP; Kinyamu, H Karimi HK; Taylor, Jack A JA; Weinberg, Clarice R CR
Publication Date: 2017-12

Variant appearance in text: rs2254210
PubMed Link: 28830874
Variant Present in the following documents:
  • Main text
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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: rs2254210
PubMed Link: 28765616
Variant Present in the following documents:
  • bjc2017242x1.pdf
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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: rs2254210
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: rs2254210
PubMed Link: 27736940
Variant Present in the following documents:
  • Main text
  • pone.0164648.pdf
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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: rs2254210
PubMed Link: 27325858
Variant Present in the following documents:
  • Main text
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Resampling to Address the Winner's Curse in Genetic Association Analysis of Time to Event.

Genetic Epidemiology
Poirier, Julia G JG; Faye, Laura L LL; Dimitromanolakis, Apostolos A; Paterson, Andrew D AD; Sun, Lei L; Bull, Shelley B SB
Publication Date: 2015-11

Variant appearance in text: rs2254210
PubMed Link: 26411674
Variant Present in the following documents:
  • Main text
  • GEPI-39-518.pdf
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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: rs2254210
PubMed Link: 25741530
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: rs2254210
PubMed Link: 25137520
Variant Present in the following documents:
  • Main text
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A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease.

Bmc Medical Genetics
Rungroj, Nanyawan N; Nettuwakul, Choochai C; Sudtachat, Nirinya N; Praditsap, Oranud O; Sawasdee, Nunghathai N; Sritippayawan, Suchai S; Chuawattana, Duangporn D; Yenchitsomanus, Pa-Thai PT
Publication Date: 2014-05-02

Variant appearance in text: rs2254210
PubMed Link: 24886237
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-50.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: rs2254210
PubMed Link: 24149131
Variant Present in the following documents:
  • Main text
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Robust estimation for homoscedastic regression in the secondary analysis of case-control data.

Journal Of The Royal Statistical Society. Series B, Statistical Methodology
Wei, Jiawei J; Carroll, Raymond J RJ; Müller, Ursula U UU; Van Keilegom, Ingrid I; Chatterjee, Nilanjan N
Publication Date: 2013-01-01

Variant appearance in text: rs2254210
PubMed Link: 23637568
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: rs2254210
PubMed Link: 23381556
Variant Present in the following documents:
  • Main text
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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: rs2254210
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: rs2254210
PubMed Link: 22155603
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-538.pdf
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Genetic associations in the vitamin D receptor and colorectal cancer in African Americans and Caucasians.

Plos One
Kupfer, Sonia S SS; Anderson, Jeffrey R JR; Ludvik, Anton E AE; Hooker, Stanley S; Skol, Andrew A; Kittles, Rick A RA; Keku, Temitope O TO; Sandler, Robert S RS; Ruiz-Ponte, Clara C; Castellvi-Bel, Sergi S; Castells, Antoni A; Carracedo, Angel A; Ellis, Nathan A NA
Publication Date: 2011

Variant appearance in text: rs2254210
PubMed Link: 22046258
Variant Present in the following documents:
  • Main text
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Population analysis of vitamin D receptor polymorphisms and the role of genetic ancestry in an admixed population.

Genetics And Molecular Biology
Lins, Tulio C TC; Vieira, Rodrigo G RG; Grattapaglia, Dario D; Pereira, Rinaldo W RW
Publication Date: 2011-07

Variant appearance in text: rs2254210
PubMed Link: 21931507
Variant Present in the following documents:
  • Main text
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Common genetic variants in the vitamin D pathway including genome-wide associated variants are not associated with breast cancer risk among Chinese women.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Dorjgochoo, Tsogzolmaa T; Delahanty, Ryan R; Lu, Wei W; Long, Jirong J; Cai, Qiuyin Q; Zheng, Ying Y; Gu, Kai K; Gao, Yu-Tang YT; Zheng, Wei W; Shu, Xiao Ou XO
Publication Date: 2011-10

Variant appearance in text: rs2254210
PubMed Link: 21828234
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: rs2254210
PubMed Link: 21548019
Variant Present in the following documents:
  • Main text
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Prostate cancer susceptibility Loci identified on chromosome 12 in African Americans.

Plos One
Bonilla, Carolina C; Hooker, Stanley S; Mason, Tshela T; Bock, Cathryn H CH; Kittles, Rick A RA
Publication Date: 2011-02-16

Variant appearance in text: rs2254210
PubMed Link: 21358824
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: rs2254210
PubMed Link: 21309754
Variant Present in the following documents:
  • Main text
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Leprosy and the adaptation of human toll-like receptor 1.

Plos Pathogens
Wong, Sunny H SH; Gochhait, Sailesh S; Malhotra, Dheeraj D; Pettersson, Fredrik H FH; Teo, Yik Y YY; Khor, Chiea C CC; Rautanen, Anna A; Chapman, Stephen J SJ; Mills, Tara C TC; Srivastava, Amit A; Rudko, Aleksey A; Freidin, Maxim B MB; Puzyrev, Valery P VP; Ali, Shafat S; Aggarwal, Shweta S; Chopra, Rupali R; Reddy, Belum S N BS; Garg, Vijay K VK; Roy, Suchismita S; Meisner, Sarah S; Hazra, Sunil K SK; Saha, Bibhuti B; Floyd, Sian S; Keating, Brendan J BJ; Kim, Cecilia C; Fairfax, Benjamin P BP; Knight, Julian C JC; Hill, Philip C PC; Adegbola, Richard A RA; Hakonarson, Hakon H; Fine, Paul E M PE; Pitchappan, Ramasamy M RM; Bamezai, Rameshwar N K RN; Hill, Adrian V S AV; Vannberg, Fredrik O FO
Publication Date: 2010-07-01

Variant appearance in text: rs2254210
PubMed Link: 20617178
Variant Present in the following documents:
  • Main text
  • ppat.1000979.pdf
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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: rs2254210
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: rs2254210
PubMed Link: 20049159
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: rs2254210
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: rs2254210
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: rs2254210
PubMed Link: 19753122
Variant Present in the following documents:
  • Main text
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TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.

Journal Of Biomedical Science
Lins, Tulio C TC; Abreu, Breno S BS; Pereira, Rinaldo W RW
Publication Date: 2009-08-14

Variant appearance in text: rs2254210
PubMed Link: 19682379
Variant Present in the following documents:
  • Main text
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A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.

Journal Of The American Society Of Nephrology : Jasn
Weng, Patricia L PL; Sanna-Cherchi, Simone S; Hensle, Terry T; Shapiro, Ellen E; Werzberger, Alan A; Caridi, Gianluca G; Izzi, Claudia C; Konka, Anita A; Reese, Adam C AC; Cheng, Rong R; Werzberger, Samuel S; Schlussel, Richard N RN; Burk, Robert D RD; Lee, Joseph H JH; Ravazzolo, Roberto R; Scolari, Francesco F; Ghiggeri, Gian Marco GM; Glassberg, Kenneth K; Gharavi, Ali G AG
Publication Date: 2009-07

Variant appearance in text: rs2254210
PubMed Link: 19443636
Variant Present in the following documents:
  • Main text
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Genetic analysis of radiation-induced changes in human gene expression.

Nature
Smirnov, Denis A DA; Morley, Michael M; Shin, Eunice E; Spielman, Richard S RS; Cheung, Vivian G VG
Publication Date: 2009-05-28

Variant appearance in text: rs2254210
PubMed Link: 19349959
Variant Present in the following documents:
  • Main text
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Evidence for genetic regulation of vitamin D status in twins with multiple sclerosis.

The American Journal Of Clinical Nutrition
Orton, Sarah-Michelle SM; Morris, Andrew P AP; Herrera, Blanca M BM; Ramagopalan, Sreeram V SV; Lincoln, Matthew R MR; Chao, Michael J MJ; Vieth, Reinhold R; Sadovnick, A Dessa AD; Ebers, George C GC
Publication Date: 2008-08

Variant appearance in text: rs2254210
PubMed Link: 18689381
Variant Present in the following documents:
  • Main text
  • ajcn26095.pdf
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