Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: CYP2A6: H415H; rs2002977

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: CYP2A6: H415H

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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Association between gene polymorphisms in the cyclophosphamide metabolism pathway with complications after haploidentical hematopoietic stem cell transplantation.

Frontiers In Immunology

Muñiz, Paula P; Andrés-Zayas, Cristina C; Carbonell, Diego D; Chicano, María M; Bailén, Rebeca R; Oarbeascoa, Gillen G; Suárez-González, Julia J; Gómez Centurión, Ignacio I; Dorado, Nieves N; Gallardo, David D; Anguita, Javier J; Kwon, Mi M; Díez-Martín, Jose L JL; Martínez-Laperche, Carolina C; Buño, Ismael I

Publication Date: 2022

Variant appearance in text: CYP2A6: 1245C>T; His415=; rs2002977

PubMed Link: 36211438

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.

Clinical And Translational Science

El-Boraie, Ahmed A; Tanner, Julie-Anne JA; Zhu, Andy Z X AZX; Claw, Katrina G KG; Prasad, Bhagwat B; Schuetz, Erin G EG; Thummel, Kenneth E KE; Fukunaga, Koya K; Mushiroda, Taisei T; Kubo, Michiaki M; Benowitz, Neal L NL; Lerman, Caryn C; Tyndale, Rachel F RF

Publication Date: 2022-01

Variant appearance in text: rs2002977

PubMed Link: 34476898

Variant Present in the following documents:

• CTS-15-204-s001.pdf

View BVdb publication page

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Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes.

Clinical And Translational Science

El-Boraie, Ahmed A; Tanner, Julie-Anne JA; Zhu, Andy Z X AZX; Claw, Katrina G KG; Prasad, Bhagwat B; Schuetz, Erin G EG; Thummel, Kenneth E KE; Fukunaga, Koya K; Mushiroda, Taisei T; Kubo, Michiaki M; Benowitz, Neal L NL; Lerman, Caryn C; Tyndale, Rachel F RF

Publication Date: 2021-09-03

Variant appearance in text: rs2002977

PubMed Link: 34476898

Variant Present in the following documents:

• CTS-15-204-s001.pdf

View BVdb publication page

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Genetic polymorphisms of the drug-metabolizing enzyme cytochrome P450 2A6 in a Tibetan Chinese population.

International Journal Of Clinical And Experimental Pathology

Xia, Ridong R; Zhu, Xikai X; Chen, Zhengshuai Z; He, Yongjun Y; Kang, Longli L; Yuan, Dongya D; Jin, Tianbo T; Wang, Li L

Publication Date: 2018

Variant appearance in text: CYP2A6: His415=; rs2002977

PubMed Link: 31949579

Variant Present in the following documents:

• Main text

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: CYP2A6: H415H; rs2002977

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genome sequencing analysis of blood cells identifies germline haplotypes strongly associated with drug resistance in osteosarcoma patients.

Bmc Cancer

Bhuvaneshwar, Krithika K; Harris, Michael M; Gusev, Yuriy Y; Madhavan, Subha S; Iyer, Ramaswamy R; Vilboux, Thierry T; Deeken, John J; Yang, Elizabeth E; Shankar, Sadhna S

Publication Date: 2019-04-16

Variant appearance in text: CYP2A6: 1245C>T; His415His

PubMed Link: 30991985

Variant Present in the following documents:

• 12885_2019_5474_MOESM4_ESM.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: rs2002977

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: CYP2A6: H415H

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CYP2A6: H415H; rs2002977

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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