Publications:

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A Computational Understanding of Inter-Individual Variability in CYP2D6 Activity to Investigate the Impact of Missense Mutations on Ochratoxin A Metabolism.

Toxins

Dorne, Jean Lou C M JLCM; Cirlini, Martina M; Louisse, Jochem J; Pedroni, Lorenzo L; Galaverna, Gianni G; Dellafiora, Luca L

Publication Date: 2022-03-14

Variant appearance in text: CYP2D6: E334A

PubMed Link: 35324704

Variant Present in the following documents:

• Main text
• toxins-14-00207.pdf

View BVdb publication page

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Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.

Clinical And Translational Science

Scott, Stuart A SA; Scott, Erick R ER; Seki, Yoshinori Y; Chen, Annette J AJ; Wallsten, Richard R; Owusu Obeng, Aniwaa A; Botton, Mariana R MR; Cody, Neal N; Shi, Huanzhi H; Zhao, Geping G; Brake, Paul P; Nicoletti, Paola P; Yang, Yao Y; Delio, Maria M; Shi, Lisong L; Kornreich, Ruth R; Schadt, Eric E EE; Edelmann, Lisa L

Publication Date: 2021-01

Variant appearance in text: CYP2D6: 1001A>C; Glu334Ala; rs72549348

PubMed Link: 32931151

Variant Present in the following documents:

• CTS-14-204-s001.xlsx, sheet 7
• CTS-14-204-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: CYP2D6: E334A; rs72549348

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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Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.

Nature Communications

Behjati, Sam S; Tarpey, Patrick S PS; Haase, Kerstin K; Ye, Hongtao H; Young, Matthew D MD; Alexandrov, Ludmil B LB; Farndon, Sarah J SJ; Collord, Grace G; Wedge, David C DC; Martincorena, Inigo I; Cooke, Susanna L SL; Davies, Helen H; Mifsud, William W; Lidgren, Mathias M; Martin, Sancha S; Latimer, Calli C; Maddison, Mark M; Butler, Adam P AP; Teague, Jon W JW; Pillay, Nischalan N; Shlien, Adam A; McDermott, Ultan U; Futreal, P Andrew PA; Baumhoer, Daniel D; Zaikova, Olga O; Bjerkehagen, Bodil B; Myklebost, Ola O; Amary, M Fernanda MF; Tirabosco, Roberto R; Van Loo, Peter P; Stratton, Michael R MR; Flanagan, Adrienne M AM; Campbell, Peter J PJ

Publication Date: 2017-06-23

Variant appearance in text: CYP2D6: 1001A>C; E334A

PubMed Link: 28643781

Variant Present in the following documents:

• ncomms15936-s3.xlsx, sheet 1

View BVdb publication page

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Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ng, David D; Hong, Celine S CS; Singh, Larry N LN; Johnston, Jennifer J JJ; Mullikin, James C JC; Biesecker, Leslie G LG

Publication Date: 2017-03

Variant appearance in text: CYP2D6: 1001A>C; Glu334Ala

PubMed Link: 27537706

Variant Present in the following documents:

• NIHMS802548-supplement-Table_S4.pdf

View BVdb publication page

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Molecular Dynamics Simulations to Investigate the Influences of Amino Acid Mutations on Protein Three-Dimensional Structures of Cytochrome P450 2D6.1, 2, 10, 14A, 51, and 62.

Plos One

Fukuyoshi, Shuichi S; Kometani, Masaharu M; Watanabe, Yurie Y; Hiratsuka, Masahiro M; Yamaotsu, Noriyuki N; Hirono, Shuichi S; Manabe, Noriyoshi N; Takahashi, Ohgi O; Oda, Akifumi A

Publication Date: 2016

Variant appearance in text: CYP2D6: E334A

PubMed Link: 27046024

Variant Present in the following documents:

• Main text
• pone.0152946.pdf

View BVdb publication page

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