Publications:

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: TPMT: 366+58T>C; rs2518463

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: TPMT: 366+58T>C

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

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: rs2518463

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_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: TPMT: 366+58T>C; rs2518463

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.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: rs2518463

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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: rs2518463

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Analyzing the potential for incorrect haplotype calls with different pharmacogenomic assays in different populations: a simulation based on 1000 Genomes data.

Pharmacogenomics

Samwald, Matthias M; Blagec, Kathrin K; Hofer, Sebastian S; Freimuth, Robert R RR

Publication Date: 2015

Variant appearance in text: rs2518463

PubMed Link: 26419264

Variant Present in the following documents:

• Main text

View BVdb publication page

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New genetic biomarkers predicting azathioprine blood concentrations in combination therapy with 5-aminosalicylic acid.

Plos One

Uchiyama, Kazuhiko K; Takagi, Tomohisa T; Iwamoto, Yasunori Y; Kondo, Norihiko N; Okayama, Tetsuya T; Yoshida, Naohisa N; Kamada, Kazuhiro K; Katada, Kazuhiro K; Handa, Osamu O; Ishikawa, Takeshi T; Yasuda, Hiroaki H; Sakagami, Junichi J; Konishi, Hideyuki H; Yagi, Nobuaki N; Naito, Yuji Y; Itoh, Yoshito Y

Publication Date: 2014

Variant appearance in text: rs2518463

PubMed Link: 24762746

Variant Present in the following documents:

• Main text
• pone.0095080.pdf

View BVdb publication page

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Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis.

Plos One

Lautner-Csorba, Orsolya O; Gézsi, András A; Erdélyi, Dániel J DJ; Hullám, Gábor G; Antal, Péter P; Semsei, Ágnes F ÁF; Kutszegi, Nóra N; Kovács, Gábor G; Falus, András A; Szalai, Csaba C

Publication Date: 2013

Variant appearance in text: rs2518463

PubMed Link: 23940529

Variant Present in the following documents:

• Main text
• pone.0069843.pdf

View BVdb publication page

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Nomenclature for alleles of the thiopurine methyltransferase gene.

Pharmacogenetics And Genomics

Appell, Malin L ML; Berg, Jonathan J; Duley, John J; Evans, William E WE; Kennedy, Martin A MA; Lennard, Lynne L; Marinaki, Tony T; McLeod, Howard L HL; Relling, Mary V MV; Schaeffeler, Elke E; Schwab, Matthias M; Weinshilboum, Richard R; Yeoh, Allen E J AE; McDonagh, Ellen M EM; Hebert, Joan M JM; Klein, Teri E TE; Coulthard, Sally A SA

Publication Date: 2013-04

Variant appearance in text: rs2518463

PubMed Link: 23407052

Variant Present in the following documents:

• Main text

View BVdb publication page

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High-resolution melting analysis of the TPMT gene: a study in the Polish population.

Genetic Testing And Molecular Biomarkers

Skrzypczak-Zielinska, Marzena M; Borun, Pawel P; Milanowska, Katarzyna K; Jakubowska-Burek, Ludwika L; Zakerska, Oliwia O; Dobrowolska-Zachwieja, Agnieszka A; Plawski, Andrzej A; Froster, Ursula G UG; Szalata, Marlena M; Slomski, Ryszard R

Publication Date: 2013-02

Variant appearance in text: TPMT: 366+58T>C; rs2518463

PubMed Link: 23252704

Variant Present in the following documents:

• Main text

View BVdb publication page

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