Publications:

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Association of Mutations Identified in Xanthinuria with the Function and Inhibition Mechanism of Xanthine Oxidoreductase.

Biomedicines

Sekine, Mai M; Okamoto, Ken K; Ichida, Kimiyoshi K

Publication Date: 2021-11-20

Variant appearance in text: XOR: Thr910Lys

PubMed Link: 34829959

Variant Present in the following documents:

• Main text
• biomedicines-09-01723.pdf

View BVdb publication page

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The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology

da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S

Publication Date: 2021

Variant appearance in text: rs669884

PubMed Link: 34721006

Variant Present in the following documents:

• datasheet1.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: XDH: 2729C>A; T910K; rs669884

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Genetic variants associated with diseases in Afghan population.

Molecular Genetics & Genomic Medicine

Zadran, Suleman Khan SK; Ilyas, Muhammad M; Dawari, Shamsia S

Publication Date: 2021-05

Variant appearance in text: rs669884

PubMed Link: 33486863

Variant Present in the following documents:

• MGG3-9-e1608-s001.xlsx, sheet 1

View BVdb publication page

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An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal

Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM

Publication Date: 2019-04

Variant appearance in text: XDH: T910K; rs669884

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A case of xanthinuria type I with a novel mutation in xanthine dehydrogenase.

Cen Case Reports

Iguchi, Akira A; Sato, Takaaki T; Yamazaki, Mihoko M; Tasaki, Kazuyuki K; Suzuki, Yasushi Y; Iino, Noriaki N; Hasegawa, Hiroshi H; Ichida, Kimiyoshi K; Narita, Ichiei I

Publication Date: 2016-11

Variant appearance in text: XDH: 2729C>A; Thr910Lys

PubMed Link: 28508967

Variant Present in the following documents:

• Main text

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: rs669884

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: rs669884

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: rs669884

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs669884

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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