Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: N/A

PubMed Link: 36966136

Variant Present in the following documents:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: FMO3: S147S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: N/A

PubMed Link: 35486589

Variant Present in the following documents:

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Impact of polymorphisms of pharmacokinetics-related genes and the inflammatory response on the metabolism of voriconazole.

Pharmacology Research & Perspectives

Aiuchi, Naoya N; Nakagawa, Junichi J; Sakuraba, Hirotake H; Takahata, Takenori T; Kamata, Kosuke K; Saito, Norihiro N; Ueno, Kayo K; Ishiyama, Masahiro M; Yamagata, Kazufumi K; Kayaba, Hiroyuki H; Niioka, Takenori T

Publication Date: 2022-04

Variant appearance in text: rs1800822

PubMed Link: 35199485

Variant Present in the following documents:

• Main text
• PRP2-10-e00935.pdf

View BVdb publication page

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Rapid detection of FMO3 single nucleotide polymorphisms using a pyrosequencing method.

Molecular Medicine Reports

Park, Jin-Woo JW; Park, In-Hwan IH; Kim, Jong-Min JM; Noh, Ji Hyeon JH; Kim, Kyoung-Ah KA; Park, Ji-Young JY

Publication Date: 2022-02

Variant appearance in text: N/A

PubMed Link: 34913068

Variant Present in the following documents:

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Rapid detection of FMO3 single nucleotide polymorphisms using a pyrosequencing method.

Molecular Medicine Reports

Park, Jin-Woo JW; Park, In-Hwan IH; Kim, Jong-Min JM; Noh, Ji Hyeon JH; Kim, Kyoung-Ah KA; Park, Ji-Young JY

Publication Date: 2022-02

Variant appearance in text: N/A

PubMed Link: 34913068

Variant Present in the following documents:

View BVdb publication page

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Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes.

Molecules (Basel, Switzerland)

Alibrandi, Simona S; Nicita, Fabiana F; Donato, Luigi L; Scimone, Concetta C; Rinaldi, Carmela C; D'Angelo, Rosalia R; Sidoti, Antonina A

Publication Date: 2021-11-22

Variant appearance in text: FMO3: 441C>T; S147=

PubMed Link: 34834137

Variant Present in the following documents:

• Main text
• molecules-26-07045.pdf

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: N/A

PubMed Link: 34621706

Variant Present in the following documents:

View BVdb publication page

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Influence of FMO3 and CYP3A4 Polymorphisms on the Pharmacokinetics of Teneligliptin in Humans.

Frontiers In Pharmacology

Park, Jin-Woo JW; Kim, Kyoung-Ah KA; Kim, Jong-Min JM; Park, In-Hwan IH; Park, Ji-Young JY

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 34512362

Variant Present in the following documents:

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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: N/A

PubMed Link: 33791233

Variant Present in the following documents:

View BVdb publication page

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: rs1800822

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: N/A

PubMed Link: 32607875

Variant Present in the following documents:

View BVdb publication page

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Brazilian cohort and genes encoding for drug-metabolizing enzymes and drug transporters.

Pharmacogenomics

Kim, Vera V; Wal, Thijs van der TV; Nishi, Miriam Yumie MY; Montenegro, Luciana Ribeiro LR; Carrilho, Flair Jose FJ; Hoshida, Yujin Y; Ono, Suzane Kioko SK

Publication Date: 2020-06

Variant appearance in text: rs1800822

PubMed Link: 32486903

Variant Present in the following documents:

• Main text

View BVdb publication page

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Importance of genetic polymorphisms in liver transplantation outcomes.

World Journal Of Gastroenterology

Kelava, Tomislav T; Turcic, Petra P; Markotic, Antonio A; Ostojic, Ana A; Sisl, Dino D; Mrzljak, Anna A

Publication Date: 2020-03-28

Variant appearance in text: rs1800822

PubMed Link: 32256016

Variant Present in the following documents:

• Main text
• WJG-26-1273.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: FMO3: 441C>T; rs1800822

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: FMO3: 441C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Nature Communications

Takata, Atsushi A; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Mizuguchi, Takeshi T; Mitsuhashi, Satomi S; Takahashi, Yukitoshi Y; Okamoto, Nobuhiko N; Osaka, Hitoshi H; Nakamura, Kazuyuki K; Tohyama, Jun J; Haginoya, Kazuhiro K; Takeshita, Saoko S; Kuki, Ichiro I; Okanishi, Tohru T; Goto, Tomohide T; Sasaki, Masayuki M; Sakai, Yasunari Y; Miyake, Noriko N; Miyatake, Satoko S; Tsuchida, Naomi N; Iwama, Kazuhiro K; Minase, Gaku G; Sekiguchi, Futoshi F; Fujita, Atsushi A; Imagawa, Eri E; Koshimizu, Eriko E; Uchiyama, Yuri Y; Hamanaka, Kohei K; Ohba, Chihiro C; Itai, Toshiyuki T; Aoi, Hiromi H; Saida, Ken K; Sakaguchi, Tomohiro T; Den, Kouhei K; Takahashi, Rina R; Ikeda, Hiroko H; Yamaguchi, Tokito T; Tsukamoto, Kazuki K; Yoshitomi, Shinsaku S; Oboshi, Taikan T; Imai, Katsumi K; Kimizu, Tomokazu T; Kobayashi, Yu Y; Kubota, Masaya M; Kashii, Hirofumi H; Baba, Shimpei S; Iai, Mizue M; Kira, Ryutaro R; Hara, Munetsugu M; Ohta, Masayasu M; Miyata, Yohane Y; Miyata, Rie R; Takanashi, Jun-Ichi JI; Matsui, Jun J; Yokochi, Kenji K; Shimono, Masayuki M; Amamoto, Masano M; Takayama, Rumiko R; Hirabayashi, Shinichi S; Aiba, Kaori K; Matsumoto, Hiroshi H; Nabatame, Shin S; Shiihara, Takashi T; Kato, Mitsuhiro M; Matsumoto, Naomichi N

Publication Date: 2019-06-07

Variant appearance in text: FMO3: 441C>T; Ser147Ser

PubMed Link: 31175295

Variant Present in the following documents:

• 41467_2019_10482_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: rs1800822

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

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: FMO3: 441C>T; rs1800822

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: N/A

PubMed Link: 29974678

Variant Present in the following documents:

View BVdb publication page

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Genetic and Nongenetic Factors Associated with Protein Abundance of Flavin-Containing Monooxygenase 3 in Human Liver.

The Journal Of Pharmacology And Experimental Therapeutics

Xu, Meijuan M; Bhatt, Deepak Kumar DK; Yeung, Catherine K CK; Claw, Katrina G KG; Chaudhry, Amarjit S AS; Gaedigk, Andrea A; Pearce, Robin E RE; Broeckel, Ulrich U; Gaedigk, Roger R; Nickerson, Deborah A DA; Schuetz, Erin E; Rettie, Allan E AE; Leeder, J Steven JS; Thummel, Kenneth E KE; Prasad, Bhagwat B

Publication Date: 2017-11

Variant appearance in text: N/A

PubMed Link: 28819071

Variant Present in the following documents:

View BVdb publication page

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Nicotine dependence is associated with functional variation in FMO3, an enzyme that metabolizes nicotine in the brain.

The Pharmacogenomics Journal

Teitelbaum, A M AM; Murphy, S E SE; Akk, G G; Baker, T B TB; Germann, A A; von Weymarn, L B LB; Bierut, L J LJ; Goate, A A; Kharasch, E D ED; Bloom, A J AJ

Publication Date: 2018-01

Variant appearance in text: rs1800822

PubMed Link: 28290528

Variant Present in the following documents:

• NIHMS835435-supplement-4.pdf

View BVdb publication page

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: N/A

PubMed Link: 27984508

Variant Present in the following documents:

View BVdb publication page

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Genome-wide linkage and association analysis of cardiometabolic phenotypes in Hispanic Americans.

Journal Of Human Genetics

Hellwege, Jacklyn N JN; Palmer, Nicholette D ND; Dimitrov, Latchezar L; Keaton, Jacob M JM; Tabb, Keri L KL; Sajuthi, Satria S; Taylor, Kent D KD; Ng, Maggie C Y MC; Speliotes, Elizabeth K EK; Hawkins, Gregory A GA; Long, Jirong J; Ida Chen, Yii-Der YD; Lorenzo, Carlos C; Norris, Jill M JM; Rotter, Jerome I JI; Langefeld, Carl D CD; Wagenknecht, Lynne E LE; Bowden, Donald W DW

Publication Date: 2017-02

Variant appearance in text: rs1800822

PubMed Link: 27535031

Variant Present in the following documents:

• Main text
• nihms802416.pdf

View BVdb publication page

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Comparative performance of oral midazolam clearance and plasma 4β-hydroxycholesterol to explain interindividual variability in tacrolimus clearance.

British Journal Of Clinical Pharmacology

Vanhove, Thomas T; de Jonge, Hylke H; de Loor, Henriëtte H; Annaert, Pieter P; Diczfalusy, Ulf U; Kuypers, Dirk R J DR

Publication Date: 2016-12

Variant appearance in text: rs1800822

PubMed Link: 27501475

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications

Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES

Publication Date: 2015-04-09

Variant appearance in text: N/A

PubMed Link: 25855536

Variant Present in the following documents:

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs1800822

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25390934

Variant Present in the following documents:

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs1800822

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: N/A

PubMed Link: 24219164

Variant Present in the following documents:

View BVdb publication page

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Relationships between flavin-containing mono-oxygenase 3 (FMO3) genotype and trimethylaminuria phenotype in a Japanese population.

British Journal Of Clinical Pharmacology

Shimizu, Makiko M; Allerston, Charles K CK; Shephard, Elizabeth A EA; Yamazaki, Hiroshi H; Phillips, Ian R IR

Publication Date: 2014-05

Variant appearance in text: N/A

PubMed Link: 24028545

Variant Present in the following documents:

View BVdb publication page

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Inflammation in the setting of chronic allograft dysfunction post-kidney transplant: phenotype and genotype.

Clinical Transplantation

Israni, Ajay K AK; Leduc, Robert R; Jacobson, Pamala A PA; Wildebush, Winston W; Guan, Weihua W; Schladt, David D; Matas, Arthur J AJ; Oetting, William S WS; ,

Publication Date: 2013

Variant appearance in text: rs1800822

PubMed Link: 23350966

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects upon in-vivo nicotine metabolism reveal functional variation in FMO3 associated with cigarette consumption.

Pharmacogenetics And Genomics

Bloom, A Joseph AJ; Murphy, Sharon E SE; Martinez, Maribel M; von Weymarn, Linda B LB; Bierut, Laura J LJ; Goate, Alison A

Publication Date: 2013-02

Variant appearance in text: rs1800822

PubMed Link: 23211429

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.

Jama

Orloff, Mohammed M; Peterson, Charissa C; He, Xin X; Ganapathi, Shireen S; Heald, Brandie B; Yang, Yi-ran YR; Bebek, Gurkan G; Romigh, Todd T; Song, Jee Hoon JH; Wu, Wenjing W; David, Stefan S; Cheng, Yulan Y; Meltzer, Stephen J SJ; Eng, Charis C

Publication Date: 2011-07-27

Variant appearance in text: rs1800822

PubMed Link: 21791690

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel polymorphisms associated with tacrolimus trough concentrations: results from a multicenter kidney transplant consortium.

Transplantation

Jacobson, Pamala A PA; Oetting, William S WS; Brearley, Ann M AM; Leduc, Robert R; Guan, Weihau W; Schladt, David D; Matas, Arthur J AJ; Lamba, Vishal V; Julian, Bruce A BA; Mannon, Rosalyn B RB; Israni, Ajay A; ,

Publication Date: 2011-02-15

Variant appearance in text: rs1800822

PubMed Link: 21206424

Variant Present in the following documents:

• Main text

View BVdb publication page

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