Publications:

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Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.

Frontiers In Pharmacology

Xie, Shuying S; Wei, Shizhang S; Ma, Xiao X; Wang, Ruilin R; He, Tingting T; Zhang, Zhao Z; Yang, Ju J; Wang, Jiawei J; Chang, Lei L; Jing, Manyi M; Li, Haotian H; Zhou, Xuelin X; Zhao, Yanling Y

Publication Date: 2023

Variant appearance in text: ABCC2: R768W

PubMed Link: 37324459

Variant Present in the following documents:

• Main text
• fphar-14-1173542.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: ABCC2: 2302C>T; Arg768Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genotype-Phenotype Association in ABCC2 Exon 18 Missense Mutation Leading to Dubin-Johnson Syndrome: A Case Report.

International Journal Of Molecular Sciences

Kim, Ji-Hoon JH; Kang, Min-Woo MW; Kim, Sangmi S; Han, Ji Won JW; Jang, Jeong Won JW; Choi, Jong Young JY; Yoon, Seung Kew SK; Sung, Pil Soo PS

Publication Date: 2022-12-18

Variant appearance in text: ABCC2: R768W

PubMed Link: 36555809

Variant Present in the following documents:

• Main text
• ijms-23-16168.pdf

View BVdb publication page

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Neonatal Dubin-Johnson Syndrome and its Differentiation from Biliary Atresia.

Journal Of Clinical And Translational Hepatology

Liu, Teng T; Zhao, Jing J; Feng, Jia-Yan JY; Lu, Yi Y; Sheps, Jonathan A JA; Wang, Ren-Xue RX; Han, Jun J; Ling, Victor V; Wang, Jian-She JS

Publication Date: 2023-02-28

Variant appearance in text: ABCC2: 2302C>T

PubMed Link: 36406324

Variant Present in the following documents:

• Main text
• JCTH-11-163.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ABCC2: R768W; rs56199535

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Clinical, Biochemical, and Molecular Characterization of Neonatal-Onset Dubin-Johnson Syndrome in a Large Case Series From the Arabs.

Frontiers In Pediatrics

Al-Hussaini, Abdulrahman A; AlSaleem, Badr B; AlHomaidani, Hamad H; Asery, Ali A; Alruwaithi, Muhanad M; Alameer, Mohammed M; Afashah, Waleed W; Salman, Bashir Muhammed BM; Almontashiri, Naif N

Publication Date: 2021

Variant appearance in text: DJS: R768W

PubMed Link: 34858902

Variant Present in the following documents:

• Main text
• fped-09-741835.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: ABCC2: 2302C>T; R768W; rs56199535

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Plos Genetics

Audain, Enrique E; Wilsdon, Anna A; Breckpot, Jeroen J; Izarzugaza, Jose M G JMG; Fitzgerald, Tomas W TW; Kahlert, Anne-Karin AK; Sifrim, Alejandro A; Wünnemann, Florian F; Perez-Riverol, Yasset Y; Abdul-Khaliq, Hashim H; Bak, Mads M; Bassett, Anne S AS; Benson, D Woodrow DW; Berger, Felix F; Daehnert, Ingo I; Devriendt, Koenraad K; Dittrich, Sven S; Daubeney, Piers Ef PE; Garg, Vidu V; Hackmann, Karl K; Hoff, Kirstin K; Hofmann, Philipp P; Dombrowsky, Gregor G; Pickardt, Thomas T; Bauer, Ulrike U; Keavney, Bernard D BD; Klaassen, Sabine S; Kramer, Hans-Heiner HH; Marshall, Christian R CR; Milewicz, Dianna M DM; Lemaire, Scott S; Coselli, Joseph S JS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A; Prakash, Siddharth K SK; Stamm, Karl K; Stewart, Alexandre F R AFR; Silversides, Candice K CK; Siebert, Reiner R; Stiller, Brigitte B; Rosenfeld, Jill A JA; Vater, Inga I; Postma, Alex V AV; Caliebe, Almuth A; Brook, J David JD; Andelfinger, Gregor G; Hurles, Matthew E ME; Thienpont, Bernard B; Larsen, Lars Allan LA; Hitz, Marc-Phillip MP

Publication Date: 2021-07

Variant appearance in text: ABCC2: 2302C>T; Arg768Trp

PubMed Link: 34324492

Variant Present in the following documents:

• pgen.1009679.s019.xlsx, sheet 3

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ABCC2: 2302C>T; Arg768Trp; rs56199535

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal

Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J

Publication Date: 2021

Variant appearance in text: ABCC2: 2302C>T; R768W; rs56199535

PubMed Link: 33777337

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: ABCC2: R768W

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome.

Bmc Pediatrics

Kim, Kwang Yeon KY; Kim, Tae Hyeong TH; Seong, Moon-Woo MW; Park, Sung Sup SS; Moon, Jin Soo JS; Ko, Jae Sung JS

Publication Date: 2020-08-05

Variant appearance in text: DJS: Arg768Trp

PubMed Link: 32758197

Variant Present in the following documents:

• Main text
• 12887_2020_Article_2260.pdf

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: ABCC2: 2302C>T; R768W; rs56199535

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy.

Frontiers In Pharmacology

Lee, Junghan J; Ha, Sungji S; Lee, Seung-Tae ST; Park, Sung-Gyun SG; Shin, Saeam S; Choi, Jong Rak JR; Cheon, Keun-Ah KA

Publication Date: 2020

Variant appearance in text: ABCC2: 2302C>T; Arg768Trp

PubMed Link: 32477112

Variant Present in the following documents:

• Main text
• fphar-11-00585.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ABCC2: 2302C>T; Arg768Trp; rs56199535

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China.

Orphanet Journal Of Rare Diseases

Wu, Lina L; Li, Yanmeng Y; Song, Yi Y; Zhou, Donghu D; Jia, Siyu S; Xu, Anjian A; Zhang, Wei W; You, Hong H; Jia, Jidong J; Huang, Jian J; Ou, Xiaojuan X

Publication Date: 2020-03-18

Variant appearance in text: ABCC2: R768W

PubMed Link: 32183854

Variant Present in the following documents:

• Main text

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: ABCC2: R768W

PubMed Link: 32100958

Variant Present in the following documents:

• Main text
• CTS-13-848.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: ABCC2: 2302C>T; rs56199535

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: ABCC2: 2302C>T; Arg768Trp; rs56199535

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: ABCC2: R768W

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of the ABCC2 gene in Chinese patients with Dubin-Johnson syndrome.

Experimental And Therapeutic Medicine

Wu, Lina L; Zhang, Wei W; Jia, Siyu S; Zhao, Xinyan X; Zhou, Donghu D; Xu, Anjian A; Duan, Weijia W; Wu, Zhen Z; Li, Hai H; Zheng, Sujun S; Nan, Yuemin Y; Jia, Jidong J; Huang, Jian J; Ou, Xiaojuan X

Publication Date: 2018-11

Variant appearance in text: DJS: R768W

PubMed Link: 30344695

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.

American Journal Of Medical Genetics. Part A

Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Lurmann, Fred F; Hammond, S Katharine SK; Shaw, Gary M GM

Publication Date: 2018-05

Variant appearance in text: rs56199535

PubMed Link: 29681089

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs56199535

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.

Clinical And Translational Science

Borobia, Alberto M AM; Dapia, Irene I; Tong, Hoi Y HY; Arias, Pedro P; Muñoz, Mario M; Tenorio, Jair J; Hernández, Rafael R; García García, Irene I; Gordo, Gema G; Ramírez, Elena E; Frías, Jesús J; Lapunzina, Pablo P; Carcas, Antonio J AJ

Publication Date: 2018-03

Variant appearance in text: rs56199535

PubMed Link: 29193749

Variant Present in the following documents:

• Main text
• CTS-11-189.pdf

View BVdb publication page

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: ABCC2: R768W

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 9

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: ABCC2: R768W; rs56199535

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2
• fpc-27-089-s004.xlsx, sheet 2

View BVdb publication page

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Pharmacogenomics of Drug Metabolizing Enzymes and Transporters: Relevance to Precision Medicine.

Genomics, Proteomics & Bioinformatics

Ahmed, Shabbir S; Zhou, Zhan Z; Zhou, Jie J; Chen, Shu-Qing SQ

Publication Date: 2016-10

Variant appearance in text: ABCC2: R768W

PubMed Link: 27729266

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.

Plos One

Wang, Neng-Li NL; Lu, Yu-Lan YL; Zhang, Ping P; Zhang, Mei-Hong MH; Gong, Jing-Yu JY; Lu, Yi Y; Xie, Xin-Bao XB; Qiu, Yi-Ling YL; Yan, Yan-Yan YY; Wu, Bing-Bing BB; Wang, Jian-She JS

Publication Date: 2016

Variant appearance in text: DJS: 2302C>T

PubMed Link: 27706244

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.

Bmc Genetics

Iskakova, Aisha N AN; Romanova, Aliya A AA; Aitkulova, Akbota M AM; Sikhayeva, Nurgul S NS; Zholdybayeva, Elena V EV; Ramanculov, Erlan M EM

Publication Date: 2016-01-19

Variant appearance in text: rs56199535

PubMed Link: 26785747

Variant Present in the following documents:

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: ABCC2: R768W; rs56199535

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: ABCC2: R768W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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: rs56199535

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Report of new haplotype for ABCC2 gene: rs17222723 and rs8187718 in cis.

The Journal Of Molecular Diagnostics : Jmd

Pratt, Victoria M VM; Beyer, Brittany N BN; Koller, Daniel L DL; Skaar, Todd C TC; Flockhart, David A DA; Levy, Kenneth D KD; Vance, Gail H GH

Publication Date: 2015-03

Variant appearance in text: ABCC2: 2302C>T; R768W; rs56199535

PubMed Link: 25554586

Variant Present in the following documents:

• Main text

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: rs56199535

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Genetic Variations of ABCC2 Gene Associated with Adverse Drug Reactions to Valproic Acid in Korean Epileptic Patients.

Genomics & Informatics

Yi, Ji Hyun JH; Cho, Yang-Je YJ; Kim, Won-Joo WJ; Lee, Min Goo MG; Lee, Ji Hyun JH

Publication Date: 2013-12

Variant appearance in text: ABCC2: Arg768Trp

PubMed Link: 24465238

Variant Present in the following documents:

• Main text
• gni-11-254.pdf

View BVdb publication page

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Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.

Pharmacological Research

Chiba, Peter P; Freissmuth, Michael M; Stockner, Thomas T

Publication Date: 2014-05

Variant appearance in text: ABCC2: R768W

PubMed Link: 24316454

Variant Present in the following documents:

• Main text

View BVdb publication page

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