Publications:

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Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: CYP1A2: 1313C>T; T438I

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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In silico screening and analysis of nonsynonymous SNPs in human CYP1A2 to assess possible associations with pathogenicity and cancer susceptibility.

Scientific Reports

Navapour, Leila L; Mogharrab, Navid N

Publication Date: 2021-03-02

Variant appearance in text: CYP1A2: T438I

PubMed Link: 33654112

Variant Present in the following documents:

• Main text
• 41598_2021_Article_83696.pdf

View BVdb publication page

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ADORA2A rs5760423 and CYP1A2 rs762551 Polymorphisms as Risk Factors for Parkinson's Disease.

Journal Of Clinical Medicine

Siokas, Vasileios V; Aloizou, Athina-Maria AM; Tsouris, Zisis Z; Liampas, Ioannis I; Liakos, Panagiotis P; Calina, Daniela D; Docea, Anca Oana AO; Tsatsakis, Aristidis A; Bogdanos, Dimitrios P DP; Hadjigeorgiou, Georgios M GM; Dardiotis, Efthimios E

Publication Date: 2021-01-20

Variant appearance in text: rs45486893

PubMed Link: 33498513

Variant Present in the following documents:

• Main text
• jcm-10-00381.pdf

View BVdb publication page

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: CYP1A2: T438I; rs45486893

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: CYP1A2: T438I; rs45486893

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

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: CYP1A2: T438I; rs45486893

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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Structure-Based Drug Design for Cytochrome P450 Family 1 Inhibitors.

Bioinorganic Chemistry And Applications

Dutkiewicz, Zbigniew Z; Mikstacka, Renata R

Publication Date: 2018

Variant appearance in text: CYP1A2: Thr438Ile

PubMed Link: 30147715

Variant Present in the following documents:

• Main text
• BCA2018-3924608.pdf

View BVdb publication page

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Serum caffeine and metabolites are reliable biomarkers of early Parkinson disease.

Neurology

Fujimaki, Motoki M; Saiki, Shinji S; Li, Yuanzhe Y; Kaga, Naoko N; Taka, Hikari H; Hatano, Taku T; Ishikawa, Kei-Ichi KI; Oji, Yutaka Y; Mori, Akio A; Okuzumi, Ayami A; Koinuma, Takahiro T; Ueno, Shin-Ichi SI; Imamichi, Yoko Y; Ueno, Takashi T; Miura, Yoshiki Y; Funayama, Manabu M; Hattori, Nobutaka N

Publication Date: 2018-01-30

Variant appearance in text: CYP1A2: 1313C>T; Thr438Ile; rs45486893

PubMed Link: 29298852

Variant Present in the following documents:

• Main text
• NEUROLOGY2017821272.pdf

View BVdb publication page

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Investigation of the major cytochrome P450 1A2 genetic variant in a healthy Tibetan population in China.

Molecular Medicine Reports

Ren, Yongchao Y; Liu, Fang F; Shi, Xugang X; Geng, Tingting T; Yuan, Dongya D; Wang, Li L; Kang, Longli L; Jin, Tianbo T; Chen, Chao C

Publication Date: 2017-07

Variant appearance in text: CYP1A2: Thr438Ile

PubMed Link: 28560456

Variant Present in the following documents:

• Main text
• mmr-16-01-0573.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: rs45486893

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs45486893

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CYP1A2: T438I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Exploiting high-throughput cell line drug screening studies to identify candidate therapeutic agents in head and neck cancer.

Bmc Pharmacology & Toxicology

Nichols, Anthony C AC; Black, Morgan M; Yoo, John J; Pinto, Nicole N; Fernandes, Andrew A; Haibe-Kains, Benjamin B; Boutros, Paul C PC; Barrett, John W JW

Publication Date: 2014-11-27

Variant appearance in text: CYP1A2: T438I; rs45486893

PubMed Link: 25428177

Variant Present in the following documents:

• 40360_2014_350_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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