Publications:

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Clinical features of sodium-taurocholate cotransporting polypeptide deficiency in pediatric patients: case series and literature review.

Translational Pediatrics

Zou, Ting-Ting TT; Zhu, Yu Y; Wan, Chao-Min CM; Liao, Qiong Q

Publication Date: 2021-04

Variant appearance in text: UGT1A1: 1099C>T

PubMed Link: 34012853

Variant Present in the following documents:

• Main text
• tp-10-04-1045.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: UGT1A5: 1102C>T; Arg368Cys; rs55750087

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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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: rs55750087

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: rs55750087

PubMed Link: 29193749

Variant Present in the following documents:

• Main text
• CTS-11-189.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: rs55750087

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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: rs55750087

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: rs55750087

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: rs55750087

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: rs55750087

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

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: rs55750087

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Comprehensive variant screening of the UGT gene family.

Yonsei Medical Journal

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Byung Lae BL; Kim, Lyoung Hyo LH; Namgoong, Suhg S; Kim, Ji On JO; Kim, Hae Deun HD; Kim, Young Hoon YH; Chung, Myeon Woo MW; Han, Soon Young SY; Shin, Hyoung Doo HD

Publication Date: 2014-01

Variant appearance in text: rs55750087

PubMed Link: 24339312

Variant Present in the following documents:

• Main text

View BVdb publication page

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