Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: CYP2C19: V330V; rs3758580

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Genetic variations in relation to bleeding and pharmacodynamics of dabigatran in Chinese patients with nonvalvular atrial fibrillation: A nationwide multicentre prospective cohort study.

Clinical And Translational Medicine

Xiang, Qian Q; Xie, Qiufen Q; Liu, Zhiyan Z; Mu, Guangyan G; Zhang, Hanxu H; Zhou, Shuang S; Wang, Zhe Z; Wang, Zining Z; Zhang, Yatong Y; Zhao, Zinan Z; Yuan, Dongdong D; Guo, Liping L; Wang, Na N; Xiang, Jing J; Song, Hongtao H; Sun, Jianjun J; Jiang, Jie J; Cui, Yimin Y

Publication Date: 2022-12

Variant appearance in text: rs3758580

PubMed Link: 36453946

Variant Present in the following documents:

• Main text

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: N/A

PubMed Link: 36409824

Variant Present in the following documents:

View BVdb publication page

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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: CYP2C19: V330V

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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Association between gene polymorphisms in the cyclophosphamide metabolism pathway with complications after haploidentical hematopoietic stem cell transplantation.

Frontiers In Immunology

Muñiz, Paula P; Andrés-Zayas, Cristina C; Carbonell, Diego D; Chicano, María M; Bailén, Rebeca R; Oarbeascoa, Gillen G; Suárez-González, Julia J; Gómez Centurión, Ignacio I; Dorado, Nieves N; Gallardo, David D; Anguita, Javier J; Kwon, Mi M; Díez-Martín, Jose L JL; Martínez-Laperche, Carolina C; Buño, Ismael I

Publication Date: 2022

Variant appearance in text: rs3758580

PubMed Link: 36211438

Variant Present in the following documents:

• Main text
• fimmu-13-1002959.pdf
• Table_1.xlsx, sheet 1

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: CYP2C19: V330V; rs3758580

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: CYP2C19: V330V

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers.

Frontiers In Pharmacology

Nie, Shanshan S; Chen, Kaifeng K; Guo, Chengxian C; Pei, Qi Q; Zou, Chan C; Yao, Liangyuan L; Yuan, Hongbo H; Zhao, Xia X; Xie, Ran R; He, Xu X; Huang, Jie J; Yang, Guoping G

Publication Date: 2021

Variant appearance in text: rs3758580

PubMed Link: 35280252

Variant Present in the following documents:

• Main text
• fphar-12-797278.pdf

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: CYP2C19: V330V

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Comparative study of prophylaxis with high and low doses of voriconazole in children with malignancy.

Current Medical Mycology

L Kandaurava, Sviatlana S; S Baslyk, Kseniya K; A Migas, Alexandr A; V Hill, Anna A; I Bydanov, Oleg O; A Mishkova, Volha V; V Aleinikova, Olga O

Publication Date: 2020-12

Variant appearance in text: CYP2C19: Val330=; rs3758580

PubMed Link: 34195457

Variant Present in the following documents:

• Main text
• cmm-6-27.pdf

View BVdb publication page

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Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: Applications to cardiovascular medicine.

Journal Of Advanced Research

Juang, Jyh-Ming Jimmy JJ; Lu, Tzu-Pin TP; Su, Ming-Wei MW; Lin, Chien-Wei CW; Yang, Jenn-Hwai JH; Chu, Hou-Wei HW; Chen, Chien-Hsiun CH; Hsiao, Yi-Wen YW; Lee, Chien-Yueh CY; Chiang, Li-Mei LM; Yu, Qi-You QY; Hsiao, Chuhsing Kate CK; Chen, Ching-Yu Julius CJ; Wu, Pei-Ei PE; Pai, Chien-Hua CH; Chuang, Eric Y EY; Shen, Chen-Yang CY

Publication Date: 2021-05

Variant appearance in text: rs3758580

PubMed Link: 34026292

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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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Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects.

Birth Defects Research

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

Publication Date: 2021-05-15

Variant appearance in text: rs3758580

PubMed Link: 33569925

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon.

Pharmacogenomics And Personalized Medicine

Fernandes, Marianne Rodrigues MR; Rodrigues, Juliana Carla Gomes JCG; Maroñas, Olalla O; Latorre-Pellicer, Ana A; Cruz, Raquel R; Guerreiro, João Farias JF; Burbano, Rommel Mario Rodriguez RMR; de Assumpção, Paulo Pimentel PP; Ribeiro-Dos-Santos, Andrea A; Dos Santos, Sidney Emanuel Batista SEB; Carracedo, Angel A; Dos Santos, Ney Pereira Carneiro NPC

Publication Date: 2021

Variant appearance in text: rs3758580

PubMed Link: 33519226

Variant Present in the following documents:

• Main text
• pgpm-14-117.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: CYP2C19: V330V; rs3758580

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: N/A

PubMed Link: 33420045

Variant Present in the following documents:

View BVdb publication page

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Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One

Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B

Publication Date: 2020

Variant appearance in text: CYP2C19: V330V; rs3758580

PubMed Link: 32492030

Variant Present in the following documents:

• pone.0233058.s001.xlsx, sheet 14

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: CYP2C19: V330V; rs3758580

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_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: CYP2C19: 990C>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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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: CYP2C19: V330V; rs3758580

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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Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users.

Obstetrics And Gynecology

Lazorwitz, Aaron A; Aquilante, Christina L CL; Oreschak, Kris K; Sheeder, Jeanelle J; Guiahi, Maryam M; Teal, Stephanie S

Publication Date: 2019-04

Variant appearance in text: rs3758580

PubMed Link: 30870275

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs3758580

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

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: CYP2C19: 990C>T; rs3758580

PubMed Link: 30319441

Variant Present in the following documents:

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

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: rs3758580

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.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 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: rs3758580

PubMed Link: 29681089

Variant Present in the following documents:

• Main text

View BVdb publication page

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Population genomic analysis of elongated skulls reveals extensive female-biased immigration in Early Medieval Bavaria.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Veeramah, Krishna R KR; Rott, Andreas A; Groß, Melanie M; van Dorp, Lucy L; López, Saioa S; Kirsanow, Karola K; Sell, Christian C; Blöcher, Jens J; Wegmann, Daniel D; Link, Vivian V; Hofmanová, Zuzana Z; Peters, Joris J; Trautmann, Bernd B; Gairhos, Anja A; Haberstroh, Jochen J; Päffgen, Bernd B; Hellenthal, Garrett G; Haas-Gebhard, Brigitte B; Harbeck, Michaela M; Burger, Joachim J

Publication Date: 2018-03-27

Variant appearance in text: rs3758580

PubMed Link: 29531040

Variant Present in the following documents:

• pnas.1719880115.sapp.pdf

View BVdb publication page

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Antituberculosis Drug-Induced Adverse Events in the Liver, Kidneys, and Blood: Clinical Profiles and Pharmacogenetic Predictors.

Clinical Pharmacology And Therapeutics

Hu, Xuejiao X; Zhang, Mei M; Bai, Hao H; Wu, Lijuan L; Chen, Yanqing Y; Ding, Liu L; Zhao, Zhenzhen Z; Peng, Wu W; Liu, Tangyuheng T; Song, Jiajia J; Li, Yinyu Y; Lu, Xiaojun X; Chen, Xuerong X; Zhou, Yanhong Y; Ying, Binwu B

Publication Date: 2018-08

Variant appearance in text: rs3758580

PubMed Link: 29071720

Variant Present in the following documents:

• Main text
• CPT-104-326.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: rs3758580

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Association of PON1, P2Y12 and COX1 with Recurrent Ischemic Events in Patients with Extracranial or Intracranial Stenting.

Plos One

Li, Xiao-Qing XQ; Ma, Ning N; Li, Xin-Gang XG; Wang, Bo B; Sun, Shu-Sen SS; Gao, Feng F; Mo, Da-Peng DP; Song, Li-Gang LG; Sun, Xuan X; Liu, Lian L; Zhao, Xing-Quan XQ; Wang, Yi-Long YL; Wang, Yong-Jun YJ; Zhao, Zhi-Gang ZG; Miao, Zhong-Rong ZR

Publication Date: 2016

Variant appearance in text: CYP2C19: Val330Val; rs3758580

PubMed Link: 26870959

Variant Present in the following documents:

• Main text
• pone.0148891.pdf

View BVdb publication page

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Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling.

Frontiers In Pharmacology

Chua, Eng Wee EW; Cree, Simone L SL; Ton, Kim N T KN; Lehnert, Klaus K; Shepherd, Phillip P; Helsby, Nuala N; Kennedy, Martin A MA

Publication Date: 2016

Variant appearance in text: rs3758580

PubMed Link: 26858644

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: rs3758580

PubMed Link: 26785747

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype‑phenotype analysis of CYP2C19 in the Tibetan population and its potential clinical implications in drug therapy.

Molecular Medicine Reports

Jin, Tianbo T; Zhang, Xiyang X; Geng, Tingting T; Shi, Xugang X; Wang, Li L; Yuan, Dongya D; Kang, Longli L

Publication Date: 2016-03

Variant appearance in text: rs3758580

PubMed Link: 26781306

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms and phenotypic analysis of drug-metabolizing enzyme CYP2C19 in a Li Chinese population.

International Journal Of Clinical And Experimental Pathology

Ding, Yipeng Y; Xu, Dongchuan D; Zhang, Xiyang X; Yang, Hua H; Geng, Tingting T; He, Ping P; Yao, Jinjian J; Yi, Shengyang S; Xu, Heping H; Wu, Duoyi D; Wang, Xiang X; Jin, Tianbo T

Publication Date: 2015

Variant appearance in text: CYP2C19: Val330Val; rs3758580

PubMed Link: 26722519

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: N/A

PubMed Link: 25589003

Variant Present in the following documents:

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: CYP2C19: V330V; rs3758580

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget

Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S

Publication Date: 2014-11-15

Variant appearance in text: N/A

PubMed Link: 25347344

Variant Present in the following documents:

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: CYP2C19: V330V

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3
• pone.0109576.s002.xls, sheet 3

View BVdb publication page

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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: rs3758580

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inactive alleles of cytochrome P450 2C19 may be positively selected in human evolution.

Bmc Evolutionary Biology

Janha, Ramatoulie E RE; Worwui, Archibald A; Linton, Kenneth J KJ; Shaheen, Seif O SO; Sisay-Joof, Fatoumatta F; Walton, Robert T RT

Publication Date: 2014-04-01

Variant appearance in text: rs3758580

PubMed Link: 24690327

Variant Present in the following documents:

• 1471-2148-14-71.pdf

View BVdb publication page

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Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness.

The Pharmacogenomics Journal

Scott, S A SA; Martis, S S; Peter, I I; Kasai, Y Y; Kornreich, R R; Desnick, R J RJ

Publication Date: 2012-08

Variant appearance in text: CYP2C19: 990C>T; rs3758580

PubMed Link: 21358751

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects.

Human Genomics

Matimba, Alice A; Del-Favero, Jurgen J; Van Broeckhoven, Christine C; Masimirembwa, Collen C

Publication Date: 2009-01

Variant appearance in text: CYP2C19: V330V; rs3758580

PubMed Link: 19164093

Variant Present in the following documents:

• Main text
• 1479-7364-3-2-169.pdf

View BVdb publication page

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