Publications:

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: CYP2B6: 1375A>G; Met459Val

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications

Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM

Publication Date: 2022-06-29

Variant appearance in text: CYP2B6: 1375A>G; Met459Val; rs3211369

PubMed Link: 35768438

Variant Present in the following documents:

• 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: CYP2B6: M459V

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation.

Frontiers In Immunology

Takeichi, Takuya T; Lee, John Y W JYW; Okuno, Yusuke Y; Miyasaka, Yuki Y; Murase, Yuya Y; Yoshikawa, Takenori T; Tanahashi, Kana K; Nishida, Emi E; Okamoto, Tatsuya T; Ito, Komei K; Muro, Yoshinao Y; Sugiura, Kazumitsu K; Ohno, Tamio T; McGrath, John A JA; Akiyama, Masashi M

Publication Date: 2021

Variant appearance in text: CYP2B6: M459V

PubMed Link: 35046931

Variant Present in the following documents:

• DataSheet_1.pdf

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: CYP2B6: M459V; rs3211369

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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South-south collaboration on HIV/AIDS prevention and treatment research: when birds of a feather rarely flock together.

Globalization And Health

Fonseca, Bruna de Paula Fonseca E BPFE; Albuquerque, Priscila Costa PC; Noyons, Ed E; Zicker, Fabio F

Publication Date: 2018-03-01

Variant appearance in text: CYP2B6: 1375A>G

PubMed Link: 29490665

Variant Present in the following documents:

• 12992_2018_341_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Worldwide Distribution of Cytochrome P450 Alleles: A Meta-analysis of Population-scale Sequencing Projects.

Clinical Pharmacology And Therapeutics

Zhou, Y Y; Ingelman-Sundberg, M M; Lauschke, V M VM

Publication Date: 2017-10

Variant appearance in text: CYP2B6: M459V; rs3211369

PubMed Link: 28378927

Variant Present in the following documents:

• Main text
• CPT-102-688.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: rs3211369

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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A pharmacogenomic prospective randomized controlled trial of CYP2B6 polymorphisms and efavirenz dose adjustment among HIV-infected Thai patients: a pilot study.

Pharmacogenomics And Personalized Medicine

Damronglerd, Pansachee P; Sukasem, Chonlaphat C; Thipmontree, Wilawan W; Puangpetch, Apichaya A; Kiertiburanakul, Sasisopin S

Publication Date: 2015

Variant appearance in text: CYP2B6: 1375A>G

PubMed Link: 26622191

Variant Present in the following documents:

• Main text

View BVdb publication page

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The use of pharmacogenetics in clinical practice for the treatment of individuals with HIV infection in Thailand.

Pharmacogenomics And Personalized Medicine

Bushyakanist, Asalaysa A; Puangpetch, Apichaya A; Sukasem, Chonlaphat C; Kiertiburanakul, Sasisopin S

Publication Date: 2015

Variant appearance in text: CYP2B6: 1375A>G

PubMed Link: 26604812

Variant Present in the following documents:

• Main text

View BVdb publication page

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PharmGKB summary: Efavirenz pathway, pharmacokinetics.

Pharmacogenetics And Genomics

McDonagh, Ellen M EM; Lau, Johnathan L JL; Alvarellos, Maria L ML; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2015-07

Variant appearance in text: rs3211369

PubMed Link: 25966836

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation.

The Pharmacogenomics Journal

Martis, S S; Mei, H H; Vijzelaar, R R; Edelmann, L L; Desnick, R J RJ; Scott, S A SA

Publication Date: 2013-12

Variant appearance in text: CYP2B6: M459V

PubMed Link: 23164804

Variant Present in the following documents:

• Main text
• nihms414574.pdf

View BVdb publication page

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Pharmacogenetic markers of CYP2B6 associated with efavirenz plasma concentrations in HIV-1 infected Thai adults.

British Journal Of Clinical Pharmacology

Sukasem, Chonlaphat C; Cressey, Tim R TR; Prapaithong, Pattamawan P; Tawon, Yardpiroon Y; Pasomsub, Ekawat E; Srichunrusami, Chutatip C; Jantararoungtong, Thawinee T; Lallement, Marc M; Chantratita, Wasun W

Publication Date: 2012-12

Variant appearance in text: CYP2B6: 1375A>G; rs3211369

PubMed Link: 22471906

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans.

British Journal Of Clinical Pharmacology

Mukonzo, Jackson K JK; Röshammar, Daniel D; Waako, Paul P; Andersson, Maria M; Fukasawa, Takashi T; Milani, Lili L; Svensson, Jan Olof JO; Ogwal-Okeng, Jasper J; Gustafsson, Lars L LL; Aklillu, Eleni E

Publication Date: 2009-11

Variant appearance in text: CYP2B6: M459V; rs3211369

PubMed Link: 19916993

Variant Present in the following documents:

• Main text

View BVdb publication page

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