Publications:

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Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics

de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2022-11

Variant appearance in text: SLC22A2: 1198C>A; Arg400Ser

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s009.xlsx, sheet 1

View BVdb publication page

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Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Frontiers In Pharmacology

Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Morel, Adrien A; Niño-Orrego, María José MJ; Ruiz-Torres, Daniel-Armando DA; Contreras Bravo, Nora Constanza NC; Restrepo, Carlos Martin CM; Ortega-Recalde, Oscar O; Fonseca-Mendoza, Dora Janeth DJ

Publication Date: 2022

Variant appearance in text: SLC22A2: 1198C>A; Arg400Ser; rs8177516

PubMed Link: 35846994

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Determinants in Tailoring Antidiabetic Therapies: A Personalized Approach.

Global Medical Genetics

Rizvi, Aliya A AA; Abbas, Mohammad M; Verma, Sushma S; Verma, Shrikant S; Khan, Almas A; Raza, Syed T ST; Mahdi, Farzana F

Publication Date: 2022-06

Variant appearance in text: rs8177516

PubMed Link: 35707783

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: SLC22A2: 1198C>A; R400S

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: SLC22A2: 1198C>A; R400S

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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: rs8177516

PubMed Link: 29681089

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular characterization of breast cancer cell response to metabolic drugs.

Oncotarget

Trilla-Fuertes, Lucía L; Gámez-Pozo, Angelo A; Arevalillo, Jorge M JM; Díaz-Almirón, Mariana M; Prado-Vázquez, Guillermo G; Zapater-Moros, Andrea A; Navarro, Hilario H; Aras-López, Rosa R; Dapía, Irene I; López-Vacas, Rocío R; Nanni, Paolo P; Llorente-Armijo, Sara S; Arias, Pedro P; Borobia, Alberto M AM; Maín, Paloma P; Feliú, Jaime J; Espinosa, Enrique E; Fresno Vara, Juan Ángel JÁ

Publication Date: 2018-02-09

Variant appearance in text: rs8177516

PubMed Link: 29515760

Variant Present in the following documents:

• Main text
• oncotarget-09-9645.pdf

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: rs8177516

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: rs8177516

PubMed Link: 29193749

Variant Present in the following documents:

• Main text
• CTS-11-189.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: SLC22A2: R400S

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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: rs8177516

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: rs8177516

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: rs8177516

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: rs8177516

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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