Publications:

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Genetic variations that influence paclitaxel pharmacokinetics and intracellular effects that may contribute to chemotherapy-induced neuropathy: A narrative review.

Frontiers In Pain Research (Lausanne, Switzerland)

Johnson, Ken B KB; Sharma, Anukriti A; Henry, N Lynn NL; Wei, Mei M; Bie, Bihua B; Hershberger, Courtney E CE; Rhoades, Emily E EE; Sen, Alper A; Johnson, Ryan E RE; Steenblik, Jacob J; Hockings, Jennifer J; Budd, G Thomas GT; Eng, Charis C; Foss, Joseph J; Rotroff, Daniel M DM

Publication Date: 2023

Variant appearance in text: rs34671512

PubMed Link: 37251592

Variant Present in the following documents:

• Main text
• fpain-04-1139883.pdf

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: SLCO1B1: L643F; rs34671512

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Pharmacogenetics of taxane-induced neurotoxicity in breast cancer: Systematic review and meta-analysis.

Clinical And Translational Science

Guijosa, Alberto A; Freyria, Ana A; Espinosa-Fernandez, Jose Rodrigo JR; Estrada-Mena, Francisco J FJ; Armenta-Quiroga, Ana Sofía AS; Ortega-Treviño, Maria Fernanda MF; Catalán, Rodrigo R; Antonio-Aguirre, Bani B; Villarreal-Garza, Cynthia C; Perez-Ortiz, Andric C AC

Publication Date: 2022-10

Variant appearance in text: rs34671512

PubMed Link: 35892315

Variant Present in the following documents:

• Main text
• CTS-15-2403.pdf

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: SLCO1B1: L643F; rs34671512

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Genomewide Association Study of Simvastatin Pharmacokinetics.

Clinical Pharmacology And Therapeutics

Mykkänen, Anssi J H AJH; Taskinen, Suvi S; Neuvonen, Mikko M; Paile-Hyvärinen, Maria M; Tarkiainen, E Katriina EK; Lilius, Tuomas T; Tapaninen, Tuija T; Backman, Janne T JT; Tornio, Aleksi A; Niemi, Mikko M

Publication Date: 2022-09

Variant appearance in text: SLCO1B1: 1929A>C; rs34671512

PubMed Link: 35652242

Variant Present in the following documents:

• Main text
• CPT-112-676-s004.pdf
• CPT-112-676.pdf

View BVdb publication page

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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: SLCO1B1: L643F

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1
• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic Review of Pharmacogenetic Factors That Influence High-Dose Methotrexate Pharmacokinetics in Pediatric Malignancies.

Cancers

Taylor, Zachary L ZL; Vang, Jesper J; Lopez-Lopez, Elixabet E; Oosterom, Natanja N; Mikkelsen, Torben T; Ramsey, Laura B LB

Publication Date: 2021-06-07

Variant appearance in text: rs34671512

PubMed Link: 34200242

Variant Present in the following documents:

• Main text
• cancers-13-02837.pdf

View BVdb publication page

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Pharmacogenetics of tenofovir and emtricitabine penetration into cerebrospinal fluid.

Southern African Journal Of Hiv Medicine

Decloedt, Eric H EH; Sinxadi, Phumla Z PZ; Wiesner, Lubbe L; Joska, John A JA; Haas, David W DW; Maartens, Gary G

Publication Date: 2021

Variant appearance in text: rs34671512

PubMed Link: 34007475

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.

Antimicrobial Agents And Chemotherapy

Pernaute-Lau, Leyre L; Adegnika, Ayola Akim AA; Zhou, Yitian Y; Zinsou, Jeannot F JF; Gil, Jose Pedro JP; Krishna, Sanjeev S; Kremsner, Peter G PG; Lauschke, Volker M VM; Velavan, Thirumalaisamy P TP

Publication Date: 2021-06-17

Variant appearance in text: OATP1B1: L643F; rs34671512

PubMed Link: 33875422

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: SLCO1B1: 1929A>C; L643F; rs34671512

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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SLCO1B1: Application and Limitations of Deep Mutational Scanning for Genomic Missense Variant Function.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals

Zhang, Lingxin L; Sarangi, Vivekananda V; Ho, Ming-Fen MF; Moon, Irene I; Kalari, Krishna R KR; Wang, Liewei L; Weinshilboum, Richard M RM

Publication Date: 2021-05

Variant appearance in text: SLCO1B1: 1929A>C; rs34671512

PubMed Link: 33658230

Variant Present in the following documents:

• Main text
• dmd.120.000264.pdf

View BVdb publication page

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Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics

Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA

Publication Date: 2021-02

Variant appearance in text: rs34671512

PubMed Link: 33462484

Variant Present in the following documents:

• Main text
• nihms-1651539.pdf

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: SLCO1B1: L643F; rs34671512

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Variation in 100 relevant pharmacogenes among emiratis with insights from understudied populations.

Scientific Reports

Al-Mahayri, Zeina N ZN; Patrinos, George P GP; Wattanapokayakit, Sukanya S; Iemwimangsa, Nareenart N; Fukunaga, Koya K; Mushiroda, Taisei T; Chantratita, Wasun W; Ali, Bassam R BR

Publication Date: 2020-12-04

Variant appearance in text: rs34671512

PubMed Link: 33277594

Variant Present in the following documents:

• 41598_2020_78231_MOESM1_ESM.pdf

View BVdb publication page

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Pharmacogenetics of Statin-Induced Myotoxicity.

Frontiers In Genetics

Kee, Ping Siu PS; Chin, Paul Ken Leong PKL; Kennedy, Martin A MA; Maggo, Simran D S SDS

Publication Date: 2020

Variant appearance in text: rs34671512

PubMed Link: 33193687

Variant Present in the following documents:

• Main text
• fgene-11-575678.pdf

View BVdb publication page

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Identification of Glycochenodeoxycholate 3-O-Glucuronide and Glycodeoxycholate 3-O-Glucuronide as Highly Sensitive and Specific OATP1B1 Biomarkers.

Clinical Pharmacology And Therapeutics

Neuvonen, Mikko M; Hirvensalo, Päivi P; Tornio, Aleksi A; Rago, Brian B; West, Mark M; Lazzaro, Sarah S; Mathialagan, Sumathy S; Varma, Manthena M; Cerny, Matthew A MA; Costales, Chester C; Ramanathan, Ragu R; Rodrigues, A David AD; Niemi, Mikko M

Publication Date: 2021-03

Variant appearance in text: SLCO1B1: 1929A>C; rs34671512

PubMed Link: 32961594

Variant Present in the following documents:

• Main text
• CPT-109-646.pdf

View BVdb publication page

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Rheostat positions: A new classification of protein positions relevant to pharmacogenomics.

Medicinal Chemistry Research : An International Journal For Rapid Communications On Design And Mechanisms Of Action Of Biologically Active Agents

Fenton, Aron W AW; Page, Braelyn M BM; Spellman-Kruse, Arianna A; Hagenbuch, Bruno B; Swint-Kruse, Liskin L

Publication Date: 2020-07

Variant appearance in text: OATP1B1: 1929A>C

PubMed Link: 32641900

Variant Present in the following documents:

• Main text
• 44_2020_Article_2582.pdf

View BVdb publication page

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Genetic Diversity in Drug Transporters: Impact in African Populations.

Clinical And Translational Science

Rajman, Iris I; Knapp, Laura L; Hanna, Imad I

Publication Date: 2020-09

Variant appearance in text: SLCO1B1: 1929A>C; rs34671512

PubMed Link: 32100958

Variant Present in the following documents:

• Main text
• CTS-13-848.pdf

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: SLCO1B1: L643F; rs34671512

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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Enantiospecific Pharmacogenomics of Fluvastatin.

Clinical Pharmacology And Therapeutics

Hirvensalo, Päivi P; Tornio, Aleksi A; Neuvonen, Mikko M; Kiander, Wilma W; Kidron, Heidi H; Paile-Hyvärinen, Maria M; Tapaninen, Tuija T; Backman, Janne T JT; Niemi, Mikko M

Publication Date: 2019-09

Variant appearance in text: SLCO1B1: 1929A>C; rs34671512

PubMed Link: 30989645

Variant Present in the following documents:

• Main text
• CPT-106-668-s002.pdf
• CPT-106-668.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: SLCO1B1: L643F; rs34671512

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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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: rs34671512

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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A cost effective RFLP method to genotype Solute carrier organic anion 1B1 (SLCO1B1) c.1929A>C (p.Leu643Phe, rs34671512); a variant with potential effect on rosuvastatin pharmacokinetics.

Bmc Research Notes

Soko, Nyarai D ND; Masimirembwa, Collen C; Dandara, Collet C

Publication Date: 2018-06-14

Variant appearance in text: SLCO1B1: 1929A>C; rs34671512

PubMed Link: 29898760

Variant Present in the following documents:

• Main text
• 13104_2018_Article_3469.pdf

View BVdb publication page

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Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).

Npj Genomic Medicine

Friedman, Daniel D; Kannan, Kasthuri K; Faustin, Arline A; Shroff, Seema S; Thomas, Cheddhi C; Heguy, Adriana A; Serrano, Jonathan J; Snuderl, Matija M; Devinsky, Orrin O

Publication Date: 2018

Variant appearance in text: SLCO1B1: L643F

PubMed Link: 29619247

Variant Present in the following documents:

• 41525_2018_48_MOESM3_ESM.xlsx, sheet 1

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: rs34671512

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Interindividual and interethnic variability in drug disposition: polymorphisms in organic anion transporting polypeptide 1B1 (OATP1B1; SLCO1B1).

British Journal Of Clinical Pharmacology

Lee, Hannah H HH; Ho, Richard H RH

Publication Date: 2017-06

Variant appearance in text: SLCO1B1: 1929A>C; rs34671512

PubMed Link: 27936281

Variant Present in the following documents:

• Main text

View BVdb publication page

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More Power to OATP1B1: An Evaluation of Sample Size in Pharmacogenetic Studies Using a Rosuvastatin PBPK Model for Intestinal, Hepatic, and Renal Transporter-Mediated Clearances.

Journal Of Clinical Pharmacology

Emami Riedmaier, Ariane A; Burt, Howard H; Abduljalil, Khaled K; Neuhoff, Sibylle S

Publication Date: 2016-07

Variant appearance in text: SLCO1B1: 1929A>C

PubMed Link: 27385171

Variant Present in the following documents:

• Main text
• JCPH-56-S132.pdf

View BVdb publication page

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Frequencies of single-nucleotide polymorphisms and haplotypes of the SLCO1B1 gene in selected populations of the western balkans.

Balkan Journal Of Medical Genetics : Bjmg

Grapci, A Daka AD; Dimovski, A J AJ; Kapedanovska, A A; Vavlukis, M M; Eftimov, A A; Geshkovska, N Matevska NM; Labachevski, N N; Jakjovski, K K; Gorani, D D; Kedev, S S; Mladenovska, K K

Publication Date: 2015-06

Variant appearance in text: SLCO1B1: 1929A>C

PubMed Link: 26929901

Variant Present in the following documents:

• Main text
• bjmg-18-01-05.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs34671512

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: SLCO1B1: L643F; rs34671512

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SLCO1B1: L643F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: SLCO1B1: L643F; rs34671512

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 1
• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 5

View BVdb publication page

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OATP1B1-related drug-drug and drug-gene interactions as potential risk factors for cerivastatin-induced rhabdomyolysis.

Pharmacogenetics And Genomics

Tamraz, Bani B; Fukushima, Hisayo H; Wolfe, Alan R AR; Kaspera, Rüdiger R; Totah, Rheem A RA; Floyd, James S JS; Ma, Benjamin B; Chu, Catherine C; Marciante, Kristin D KD; Heckbert, Susan R SR; Psaty, Bruce M BM; Kroetz, Deanna L DL; Kwok, Pui-Yan PY

Publication Date: 2013-07

Variant appearance in text: SLCO1B1: L643F; rs34671512

PubMed Link: 23652407

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics is a major determinant of expression of the human hepatic uptake transporter OATP1B1, but not of OATP1B3 and OATP2B1.

Genome Medicine

Nies, Anne T AT; Niemi, Mikko M; Burk, Oliver O; Winter, Stefan S; Zanger, Ulrich M UM; Stieger, Bruno B; Schwab, Matthias M; Schaeffeler, Elke E

Publication Date: 2013

Variant appearance in text: SLCO1B1: 1929A>C

PubMed Link: 23311897

Variant Present in the following documents:

• Main text
• gm405.pdf

View BVdb publication page

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