Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1137115

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: N/A

PubMed Link: 36269797

Variant Present in the following documents:

View BVdb publication page

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Impact of genetic variants in the nicotine metabolism pathway on nicotine metabolite levels in smokers.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Perez-Paramo, Yadira X YX; Watson, Christy J W CJW; Chen, Gang G; Thomas, Claire E CE; Adams-Haduch, Jennifer J; Wang, Renwei R; Khor, Chiea Chuen CC; Koh, Woon-Puay WP; Nelson, Heather H HH; Yuan, Jian-Min JM; Lazarus, Philip P

Publication Date: 2022-10-17

Variant appearance in text: rs1137115

PubMed Link: 36252563

Variant Present in the following documents:

• Main text
• 54.pdf

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: N/A

PubMed Link: 36241656

Variant Present in the following documents:

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: N/A

PubMed Link: 36211438

Variant Present in the following documents:

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: N/A

PubMed Link: 36075891

Variant Present in the following documents:

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: CYP2A6: V17V

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

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: N/A

PubMed Link: 34621706

Variant Present in the following documents:

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: rs1137115

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: 2022-01

Variant appearance in text: rs1137115

PubMed Link: 34476898

Variant Present in the following documents:

• CTS-15-204-s001.pdf

View BVdb publication page

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Genetic Variants in Smoking-Related Genes in Two Smoking Cessation Programs: A Cross-Sectional Study.

International Journal Of Environmental Research And Public Health

Pérez-Rubio, Gloria G; López-Flores, Luis Alberto LA; Cupertino, Ana Paula AP; Cartujano-Barrera, Francisco F; Reynales-Shigematsu, Luz Myriam LM; Ramírez, Mariana M; Ellerbeck, Edward F EF; Rodríguez-Bolaños, Rosibel R; Falfan-Valencia, Ramcés R

Publication Date: 2021-06-19

Variant appearance in text: rs1137115

PubMed Link: 34205269

Variant Present in the following documents:

• Main text
• ijerph-18-06597.pdf

View BVdb publication page

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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: CYP2A6: 51A>G; rs1137115

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Biochemistry of nicotine metabolism and its relevance to lung cancer.

The Journal Of Biological Chemistry

Murphy, Sharon E SE

Publication Date: 2021

Variant appearance in text: rs1137115

PubMed Link: 33932402

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 33791233

Variant Present in the following documents:

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs1137115

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: N/A

PubMed Link: 33420045

Variant Present in the following documents:

View BVdb publication page

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs1137115

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 17
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 19

View BVdb publication page

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: N/A

PubMed Link: 32607875

Variant Present in the following documents:

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: N/A

PubMed Link: 32529721

Variant Present in the following documents:

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1137115

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A Machine Learning-Based Identification of Genes Affecting the Pharmacokinetics of Tacrolimus Using the DMETTM Plus Platform.

International Journal Of Molecular Sciences

Gim, Jeong-An JA; Kwon, Yonghan Y; Lee, Hyun A HA; Lee, Kyeong-Ryoon KR; Kim, Soohyun S; Choi, Yoonjung Y; Kim, Yu Kyong YK; Lee, Howard H

Publication Date: 2020-04-04

Variant appearance in text: rs1137115

PubMed Link: 32260456

Variant Present in the following documents:

• Main text
• ijms-21-02517.pdf

View BVdb publication page

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Genetic variants in CYP2A6 and UGT1A9 genes associated with urinary nicotine metabolites in young Mexican smokers.

The Pharmacogenomics Journal

Borrego-Soto, Gissela G; Perez-Paramo, Yadira X YX; Chen, Gang G; Santuario-Facio, Sandra K SK; Santos-Guzman, Jesus J; Posadas-Valay, Rodolfo R; Alvarado-Monroy, Fatima M FM; Balderas-Renteria, Isaias I; Medina-Gonzalez, Ramses R; Ortiz-Lopez, Rocio R; Lazarus, Philip P; Rojas-Martinez, Augusto A

Publication Date: 2020-08

Variant appearance in text: rs1137115

PubMed Link: 31959879

Variant Present in the following documents:

• Main text
• 41397_2020_Article_147.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: N/A

PubMed Link: 31949579

Variant Present in the following documents:

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: N/A

PubMed Link: 31597922

Variant Present in the following documents:

View BVdb publication page

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Pharmacogenomics of Nicotine Metabolism: Novel CYP2A6 and CYP2B6 Genetic Variation Patterns in Alaska Native and American Indian Populations.

Nicotine & Tobacco Research : Official Journal Of The Society For Research On Nicotine And Tobacco

Claw, Katrina G KG; Beans, Julie A JA; Lee, Seung-Been SB; Avey, Jaedon P JP; Stapleton, Patricia A PA; Scherer, Steven E SE; El-Boraie, Ahmed A; Tyndale, Rachel F RF; Nickerson, Deborah A DA; Dillard, Denise A DA; Thummel, Kenneth E KE; Robinson, Renee F RF

Publication Date: 2020-05-26

Variant appearance in text: rs1137115

PubMed Link: 31241144

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of a weighted genetic risk score for the prediction of biomarkers of CYP2A6 activity.

Addiction Biology

El-Boraie, Ahmed A; Taghavi, Taraneh T; Chenoweth, Meghan J MJ; Fukunaga, Koya K; Mushiroda, Taisei T; Kubo, Michiaki M; Lerman, Caryn C; Nollen, Nicole L NL; Benowitz, Neal L NL; Tyndale, Rachel F RF

Publication Date: 2020-01

Variant appearance in text: rs1137115

PubMed Link: 30815984

Variant Present in the following documents:

• Main text

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs1137115

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Target sequencing of cancer-related genes in early esophageal squamous neoplasia resected by endoscopic resection in Japanese patients.

Oncotarget

Kobayashi, Shoji S; Yamaguchi, Tatsuya T; Maekawa, Shinya S; Takano, Shinichi S; Kuno, Toru T; Tanaka, Keisuke K; Tsukui, Yuya Y; Iwamoto, Fumihiko F; Yoshida, Takashi T; Asakawa, Yukiko Y; Fukasawa, Mitsuharu M; Nakayama, Yasuhiro Y; Inoue, Taisuke T; Uetake, Tomoyoshi T; Sakamoto, Minoru M; Ohtaka, Masahiko M; Sato, Tadashi T; Enomoto, Nobuyuki N

Publication Date: 2018-12-04

Variant appearance in text: rs1137115

PubMed Link: 30613367

Variant Present in the following documents:

• oncotarget-09-36793-s001.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs1137115

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_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: CYP2A6: 51A>G; rs1137115

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.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: rs1137115

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: N/A

PubMed Link: 29974678

Variant Present in the following documents:

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: N/A

PubMed Link: 29221171

Variant Present in the following documents:

View BVdb publication page

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Data on polymorphisms in CYP2A6 associated to risk and predispose to smoking related variables.

Data In Brief

López-Flores, Luis A LA; Pérez-Rubio, Gloria G; Ramírez-Venegas, Alejandra A; Ambrocio-Ortiz, Enrique E; Sansores, Raúl H RH; Falfán-Valencia, Ramcés R

Publication Date: 2017-12

Variant appearance in text: rs1137115

PubMed Link: 28971126

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Prenatal exposure to drinking-water chlorination by-products, cytochrome P450 gene polymorphisms and small-for-gestational-age neonates.

Reproductive Toxicology (Elmsford, N.Y.)

Bonou, Samuella G SG; Levallois, Patrick P; Giguère, Yves Y; Rodriguez, Manuel M; Bureau, Alexandre A

Publication Date: 2017-10

Variant appearance in text: rs1137115

PubMed Link: 28774688

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1137115

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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CYP2A6 genetic polymorphisms and biomarkers of tobacco smoke constituents in relation to risk of lung cancer in the Singapore Chinese Health Study.

Carcinogenesis

Yuan, Jian-Min JM; Nelson, Heather H HH; Carmella, Steven G SG; Wang, Renwei R; Kuriger-Laber, Jacquelyn J; Jin, Aizhen A; Adams-Haduch, Jennifer J; Hecht, Stephen S SS; Koh, Woon-Puay WP; Murphy, Sharon E SE

Publication Date: 2017-04-01

Variant appearance in text: rs1137115

PubMed Link: 28182203

Variant Present in the following documents:

• Main text

View BVdb publication page

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CYP2A6 metabolism in the development of smoking behaviors in young adults.

Addiction Biology

Olfson, Emily E; Bloom, Joseph J; Bertelsen, Sarah S; Budde, John P JP; Breslau, Naomi N; Brooks, Andrew A; Culverhouse, Robert R; Chan, Grace G; Chen, Li-Shiun LS; Chorlian, David D; Dick, Danielle M DM; Edenberg, Howard J HJ; Hartz, Sarah S; Hatsukami, Dorothy D; Hesselbrock, Victor M VM; Johnson, Eric O EO; Kramer, John R JR; Kuperman, Samuel S; Meyers, Jacquelyn L JL; Nurnberger, John J; Porjesz, Bernice B; Saccone, Nancy L NL; Schuckit, Marc A MA; Stitzel, Jerry J; Tischfield, Jay A JA; Rice, John P JP; Goate, Alison A; Bierut, Laura J LJ

Publication Date: 2018-01

Variant appearance in text: rs1137115

PubMed Link: 28032407

Variant Present in the following documents:

• Main text

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: N/A

PubMed Link: 27984508

Variant Present in the following documents:

View BVdb publication page

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Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Oncotarget

Raaijmakers, Marieke I G MI; Widmer, Daniel S DS; Narechania, Apurva A; Eichhoff, Ossia O; Freiberger, Sandra N SN; Wenzina, Judith J; Cheng, Phil F PF; Mihic-Probst, Daniela D; Desalle, Rob R; Dummer, Reinhard R; Levesque, Mitchell P MP

Publication Date: 2016-11-22

Variant appearance in text: CYP2A6: V17V

PubMed Link: 27791198

Variant Present in the following documents:

• oncotarget-07-77163-s002.xlsx, sheet 1
• oncotarget-07-77163-s003.xlsx, sheet 10
• oncotarget-07-77163-s002.xlsx, sheet 2
• oncotarget-07-77163-s003.xlsx, sheet 2
• oncotarget-07-77163-s003.xlsx, sheet 1
• oncotarget-07-77163-s002.xlsx, sheet 3
• oncotarget-07-77163-s002.xlsx, sheet 10
• oncotarget-07-77163-s003.xlsx, sheet 3

View BVdb publication page

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Novel Association of Genetic Markers Affecting CYP2A6 Activity and Lung Cancer Risk.

Cancer Research

Patel, Yesha M YM; Park, Sunghim L SL; Han, Younghun Y; Wilkens, Lynne R LR; Bickeböller, Heike H; Rosenberger, Albert A; Caporaso, Neil N; Landi, Maria Teresa MT; Brüske, Irene I; Risch, Angela A; Wei, Yongyue Y; Christiani, David C DC; Brennan, Paul P; Houlston, Richard R; McKay, James J; McLaughlin, John J; Hung, Rayjean R; Murphy, Sharon S; Stram, Daniel O DO; Amos, Christopher C; Le Marchand, Loïc L

Publication Date: 2016-10-01

Variant appearance in text: rs1137115

PubMed Link: 27488534

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-Wide Association of the Laboratory-Based Nicotine Metabolite Ratio in Three Ancestries.

Nicotine & Tobacco Research : Official Journal Of The Society For Research On Nicotine And Tobacco

Baurley, James W JW; Edlund, Christopher K CK; Pardamean, Carissa I CI; Conti, David V DV; Krasnow, Ruth R; Javitz, Harold S HS; Hops, Hyman H; Swan, Gary E GE; Benowitz, Neal L NL; Bergen, Andrew W AW

Publication Date: 2016-09

Variant appearance in text: rs1137115

PubMed Link: 27113016

Variant Present in the following documents:

• Main text
• ntw117.pdf

View BVdb publication page

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Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder.

Neuropsychiatric Disease And Treatment

Medhasi, Sadeep S; Pasomsub, Ekawat E; Vanwong, Natchaya N; Ngamsamut, Nattawat N; Puangpetch, Apichaya A; Chamnanphon, Montri M; Hongkaew, Yaowaluck Y; Limsila, Penkhae P; Pinthong, Darawan D; Sukasem, Chonlaphat C

Publication Date: 2016

Variant appearance in text: N/A

PubMed Link: 27110117

Variant Present in the following documents:

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Precision Medicine for Tobacco Dependence: Development and Validation of the Nicotine Metabolite Ratio.

Journal Of Neuroimmune Pharmacology : The Official Journal Of The Society On Neuroimmune Pharmacology

Allenby, Cheyenne E CE; Boylan, Kelly A KA; Lerman, Caryn C; Falcone, Mary M

Publication Date: 2016-09

Variant appearance in text: rs1137115

PubMed Link: 26872457

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Genetic determinants of CYP2A6 activity across racial/ethnic groups with different risks of lung cancer and effect on their smoking intensity.

Carcinogenesis

Park, Sungshim L SL; Tiirikainen, Maarit I MI; Patel, Yesha M YM; Wilkens, Lynne R LR; Stram, Daniel O DO; Le Marchand, Loic L; Murphy, Sharon E SE

Publication Date: 2016-03

Variant appearance in text: rs1137115

PubMed Link: 26818358

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Genetic determinants of cytochrome P450 2A6 activity and biomarkers of tobacco smoke exposure in relation to risk of lung cancer development in the Shanghai cohort study.

International Journal Of Cancer

Yuan, Jian-Min JM; Nelson, Heather H HH; Butler, Lesley M LM; Carmella, Steven G SG; Wang, Renwei R; Kuriger-Laber, Jacquelyn K JK; Adams-Haduch, Jennifer J; Hecht, Stephen S SS; Gao, Yu-Tang YT; Murphy, Sharon E SE

Publication Date: 2016-05-01

Variant appearance in text: rs1137115

PubMed Link: 26662855

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