Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: XPC: Q939K

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Association of Clinical Aspects and Genetic Variants with the Severity of Cisplatin-Induced Ototoxicity in Head and Neck Squamous Cell Carcinoma: A Prospective Cohort Study.

Cancers

Macedo, Ligia Traldi LT; Costa, Ericka Francislaine Dias EFD; Carvalho, Bruna Fernandes BF; Lourenço, Gustavo Jacob GJ; Calonga, Luciane L; Castilho, Arthur Menino AM; Chone, Carlos Takahiro CT; Lima, Carmen Silvia Passos CSP

Publication Date: 2023-03-14

Variant appearance in text: rs2228001

PubMed Link: 36980643

Variant Present in the following documents:

• Main text
• cancers-15-01759.pdf

View BVdb publication page

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Personalized Medicine in Infant Population with Cancer: Pharmacogenetic Pilot Study of Polymorphisms Related to Toxicity and Response to Chemotherapy.

Cancers

Urtasun, Andrea A; Olivera, Gladys G GG; Sendra, Luis L; Aliño, Salvador F SF; Berlanga, Pablo P; Gargallo, Pablo P; Hervás, David D; Balaguer, Julia J; Juan-Ribelles, Antonio A; Andrés, María Del Mar MDM; Cañete, Adela A; Herrero, María José MJ

Publication Date: 2023-02-23

Variant appearance in text: rs2228001

PubMed Link: 36900216

Variant Present in the following documents:

• Main text
• cancers-15-01424.pdf

View BVdb publication page

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The relationship between single nucleotide polymorphisms and skin cancer susceptibility: A systematic review and network meta-analysis.

Frontiers In Oncology

Zhang, Lu L; Pozsgai, Éva É; Song, Yongan Y; Macharia, John J; Alfatafta, Huda H; Zheng, Jia J; Li, Zhaoyi Z; Liu, Hongbo H; Kiss, István I

Publication Date: 2023

Variant appearance in text: rs2228001

PubMed Link: 36874118

Variant Present in the following documents:

• Main text
• fonc-13-1094309.pdf

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: XPC: Q939K; rs2228001

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Gene polymorphisms and prognosis of head and neck squamous cell carcinoma: a systematic review.

Reports Of Practical Oncology And Radiotherapy : Journal Of Greatpoland Cancer Center In Poznan And Polish Society Of Radiation Oncology

Rajabi-Moghaddam, Mahdieh M; Abbaszadeh, Hamid H

Publication Date: 2022

Variant appearance in text: rs2228001

PubMed Link: 36632296

Variant Present in the following documents:

• Main text
• rpor-27-6-1045.pdf

View BVdb publication page

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Circulating Tumor Cells as Biomarkers for Renal Cell Carcinoma: Ready for Prime Time?

Cancers

Couto-Cunha, Anabela A; Jerónimo, Carmen C; Henrique, Rui R

Publication Date: 2022-12-31

Variant appearance in text: rs2228001

PubMed Link: 36612281

Variant Present in the following documents:

• cancers-15-00287.pdf

View BVdb publication page

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Pharmacogenetics of chemotherapy treatment response and -toxicities in patients with osteosarcoma: a systematic review.

Bmc Cancer

Hurkmans, Evelien G E EGE; Brand, Annouk C A M ACAM; Verdonschot, Job A J JAJ; Te Loo, D Maroeska W M DMWM; Coenen, Marieke J H MJH

Publication Date: 2022-12-19

Variant appearance in text: rs2228001

PubMed Link: 36536332

Variant Present in the following documents:

• Main text
• 12885_2022_Article_10434.pdf
• 12885_2022_10434_MOESM2_ESM.pdf

View BVdb publication page

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Complex molecular profile of DNA repair genes in epithelial ovarian carcinoma patients with different sensitivity to platinum-based therapy.

Frontiers In Oncology

Seborova, Karolina K; Hlavac, Viktor V; Holy, Petr P; Bjørklund, Sunniva S SS; Fleischer, Thomas T; Rob, Lukas L; Hruda, Martin M; Bouda, Jiri J; Mrhalova, Marcela M; Allah, Mohammad Moufaq Khatar Al Obeed MMKAO; Vodicka, Pavel P; Fiala, Ondrej O; Soucek, Pavel P; Kristensen, Vessela N VN; Vodickova, Ludmila L; Vaclavikova, Radka R

Publication Date: 2022

Variant appearance in text: rs2228001

PubMed Link: 36531044

Variant Present in the following documents:

• Main text
• fonc-12-1016958.pdf

View BVdb publication page

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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: XPC: Q939K; rs2228001

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Polymorphisms of nucleotide excision repair genes associated with colorectal cancer risk: Meta-analysis and trial sequential analysis.

Frontiers In Genetics

Yi, Chuncheng C; Li, Tiandong T; Shen, Yajing Y; Wang, Peng P; Dai, Liping L; Shi, Jianxiang J; Wang, Keyan K; Sun, Changqing C; Ye, Hua H

Publication Date: 2022

Variant appearance in text: rs2228001

PubMed Link: 36386844

Variant Present in the following documents:

• Main text
• fgene-13-1009938.pdf

View BVdb publication page

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Targeting DNA damage response as a potential therapeutic strategy for head and neck squamous cell carcinoma.

Frontiers In Oncology

Lei, Huimin H; He, Ading A; Jiang, Yingying Y; Ruan, Min M; Han, Nannan N

Publication Date: 2022

Variant appearance in text: rs2228001

PubMed Link: 36338767

Variant Present in the following documents:

• Main text
• fonc-12-1031944.pdf

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: XPC: 2815C>A; Gln939Lys; rs2228001

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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Roles of DNA damage repair and precise targeted therapy in renal cancer (Review).

Oncology Reports

Lai, Yongchang Y; Li, Zhibiao Z; Lu, Zechao Z; Zheng, Hanxiong H; Chen, Chiheng C; Liu, Can C; Yang, Yafei Y; Tang, Fucai F; He, Zhaohui Z

Publication Date: 2022-12

Variant appearance in text: rs2228001

PubMed Link: 36263616

Variant Present in the following documents:

• or-48-06-08428.pdf

View BVdb publication page

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Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics

Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E

Publication Date: 2022-10-17

Variant appearance in text: XPC: 2815C>A; Gln939Lys; rs2228001

PubMed Link: 36253817

Variant Present in the following documents:

• 12920_2022_1372_MOESM2_ESM.xlsx, sheet 1
• 12920_2022_1372_MOESM1_ESM.xlsx, sheet 1

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: XPC: Q939K

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

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: XPC: Q939K

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Joint effects of polycyclic aromatic hydrocarbons, smoking, and XPC polymorphisms on damage in exon 2 of KRAS gene among young coke oven workers.

Frontiers In Public Health

Chen, Siqin S; Yin, Xingyue X; He, Yuefeng Y; He, Qinghua Q; Li, Xiaomei X; Yan, Maosheng M; Huang, Suli S; Lu, Jiachun J; Yang, Binyao B

Publication Date: 2022

Variant appearance in text: rs2228001

PubMed Link: 35991047

Variant Present in the following documents:

• Main text
• fpubh-10-945955.pdf

View BVdb publication page

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Genetic Variants in Double-Strand Break Repair Pathway Genes to Predict Platinum-Based Chemotherapy Prognosis in Patients With Lung Cancer.

Frontiers In Pharmacology

Liu, Jun-Yan JY; Zou, Ting T; Yin, Ji-Ye JY; Wang, Zhan Z; Liu, Chong C; Huang, Han-Xue HX; Ding, Fei-Xiang FX; Lei, Meng-Rong MR; Wang, Ying Y; Liu, Min M; Liu, Zhao-Qian ZQ; Tan, Li-Ming LM; Chen, Juan J

Publication Date: 2022

Variant appearance in text: rs2228001

PubMed Link: 35899106

Variant Present in the following documents:

• Main text
• fphar-13-915822.pdf

View BVdb publication page

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Pharmacogenomic Profile of Amazonian Amerindians.

Journal Of Personalized Medicine

Rodrigues, Juliana Carla Gomes JCG; Fernandes, Marianne Rodrigues MR; Ribeiro-Dos-Santos, André Maurício AM; de Araújo, Gilderlanio Santana GS; de Souza, Sandro José SJ; Guerreiro, João Farias JF; Ribeiro-Dos-Santos, Ândrea Â; de Assumpção, Paulo Pimentel PP; Santos, Ney Pereira Carneiro Dos NPCD; Santos, Sidney S

Publication Date: 2022-06-10

Variant appearance in text: rs2228001

PubMed Link: 35743738

Variant Present in the following documents:

• Main text
• jpm-12-00952.pdf

View BVdb publication page

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Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood Advances

Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q

Publication Date: 2022-09-27

Variant appearance in text: XPC: Q939K; rs2228001

PubMed Link: 35687490

Variant Present in the following documents:

• advancesADV2021006654-suppl4.xlsx, sheet 26
• advancesADV2021006654-suppl12.xlsx, sheet 1

View BVdb publication page

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Pharmacogenetics implementation in the clinics: information and guidelines for germline variants.

Cancer Drug Resistance (Alhambra, Calif.)

Olivera, Gladys G; Sendra, Luis L; Herrero, María José MJ; Berlanga, Pablo P; Gargallo, Pablo P; Yáñez, Yania Y; Urtasun, Andrea A; de Mora, Jaime Font JF; Castel, Victoria V; Cañete, Adela A; Aliño, Salvador F SF

Publication Date: 2019

Variant appearance in text: rs2228001

PubMed Link: 35582138

Variant Present in the following documents:

• cdr-2-53.pdf

View BVdb publication page

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The current state of genetic risk models for the development of kidney cancer: a review and validation.

Bju International

Harrison, Hannah H; Li, Nicole N; Saunders, Catherine L CL; Rossi, Sabrina H SH; Dennis, Joe J; Griffin, Simon J SJ; Stewart, Grant D GD; Usher-Smith, Juliet A JA

Publication Date: 2022-11

Variant appearance in text: rs2228001

PubMed Link: 35460182

Variant Present in the following documents:

• BJU-130-550-s004.pdf

View BVdb publication page

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Genetic Epidemiology of Medication Safety and Efficacy Related Variants in the Central Han Chinese Population With Whole Genome Sequencing.

Frontiers In Pharmacology

Tian, Junbo J; Zhang, Jing J; Yang, Zengguang Z; Feng, Shuaisheng S; Li, Shujuan S; Ren, Shiqi S; Shi, Jianxiang J; Hou, Xinyue X; Xue, Xia X; Yang, Bei B; Xu, Hongen H; Guo, Jiancheng J

Publication Date: 2021

Variant appearance in text: rs2228001

PubMed Link: 35280256

Variant Present in the following documents:

• Main text
• fphar-12-790832.pdf

View BVdb publication page

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Noninvasive circulating tumor cell and urine cellular XPC (rs2228001, A2815C) and XRCC1 (rs25487, G1196A) polymorphism detection as an effective screening panel for genitourinary system cancers.

Translational Cancer Research

Wu, Cen C; Xu, Cheng C; Wang, Guaxiu G; Zhang, Dahu D; Zhao, Xiaoyu X

Publication Date: 2019-12

Variant appearance in text: rs2228001

PubMed Link: 35117037

Variant Present in the following documents:

• Main text

View BVdb publication page

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TYMS 3'-UTR Polymorphism: A Novel Association with FOLFIRINOX-Induced Neurotoxicity in Pancreatic Cancer Patients.

Pharmaceutics

Emelyanova, Marina M; Pokataev, Ilya I; Shashkov, Igor I; Kopantseva, Elena E; Lyadov, Vladimir V; Heydarov, Rustam R; Mikhailovich, Vladimir V

Publication Date: 2021-12-29

Variant appearance in text: rs2228001

PubMed Link: 35056973

Variant Present in the following documents:

• Main text
• pharmaceutics-14-00077.pdf

View BVdb publication page

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TYMS 3'-UTR Polymorphism: A Novel Association with FOLFIRINOX-Induced Neurotoxicity in Pancreatic Cancer Patients.

Pharmaceutics

Emelyanova, Marina M; Pokataev, Ilya I; Shashkov, Igor I; Kopantseva, Elena E; Lyadov, Vladimir V; Heydarov, Rustam R; Mikhailovich, Vladimir V

Publication Date: 2021-12-29

Variant appearance in text: rs2228001

PubMed Link: 35056973

Variant Present in the following documents:

• Main text
• pharmaceutics-14-00077.pdf

View BVdb publication page

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Validation of Genetic Markers Associated with Survival in Colorectal Cancer Patients Treated with Oxaliplatin-Based Chemotherapy.

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

Park, Hanla A HA; Seibold, Petra P; Edelmann, Dominic D; Benner, Axel A; Canzian, Federico F; Alwers, Elizabeth E; Jansen, Lina L; Schneider, Martin M; Hoffmeister, Michael M; Brenner, Hermann H; Chang-Claude, Jenny J

Publication Date: 2022-02

Variant appearance in text: rs2228001

PubMed Link: 34862210

Variant Present in the following documents:

• Main text
• 268527_2_supp_7525223_r2sknd.pdf
• 352.pdf

View BVdb publication page

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Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study.

Cells

Corallo, Diana D; Zanon, Carlo C; Pantile, Marcella M; Tonini, Gian Paolo GP; Zin, Angelica A; Francescato, Samuela S; Rossi, Bartolomeo B; Trevisson, Eva E; Pinato, Claudia C; Monferrer, Ezequiel E; Noguera, Rosa R; Aliño, Salvador F SF; Herrero, Maria Jose MJ; Biffi, Alessandra A; Viscardi, Elisabetta E; Aveic, Sanja S

Publication Date: 2021-10-09

Variant appearance in text: rs2228001

PubMed Link: 34685674

Variant Present in the following documents:

• Main text
• cells-10-02695.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: XPC: Q939K; rs2228001

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 9

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: XPC: Q939K; rs2228001

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 9
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 6

View BVdb publication page

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Pharmacogenetics in Neuroblastoma: What Can Already Be Clinically Implemented and What Is Coming Next?

International Journal Of Molecular Sciences

Olivera, Gladys G GG; Urtasun, Andrea A; Sendra, Luis L; Aliño, Salvador F SF; Yáñez, Yania Y; Segura, Vanessa V; Gargallo, Pablo P; Berlanga, Pablo P; Castel, Victoria V; Cañete, Adela A; Herrero, María José MJ

Publication Date: 2021-09-10

Variant appearance in text: rs2228001

PubMed Link: 34575974

Variant Present in the following documents:

• Main text

View BVdb publication page

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Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk.

Frontiers In Molecular Biosciences

Li, Xiaoying X; Wu, Qijun Q; Zhou, Baosen B; Liu, Yashu Y; Lv, Jiale J; Chang, Qing Q; Zhao, Yuhong Y

Publication Date: 2021

Variant appearance in text: rs2228001

PubMed Link: 34540891

Variant Present in the following documents:

• Main text
• fmolb-08-687105.pdf

View BVdb publication page

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PriME-PGx: La Princesa University Hospital Multidisciplinary Initiative for the Implementation of Pharmacogenetics.

Journal Of Clinical Medicine

Zubiaur, Pablo P; Mejía-Abril, Gina G; Navares-Gómez, Marcos M; Villapalos-García, Gonzalo G; Soria-Chacartegui, Paula P; Saiz-Rodríguez, Miriam M; Ochoa, Dolores D; Abad-Santos, Francisco F

Publication Date: 2021-08-24

Variant appearance in text: rs2228001

PubMed Link: 34501219

Variant Present in the following documents:

• Main text
• jcm-10-03772.pdf

View BVdb publication page

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The correlation between polymorphisms in the XPC gene and glioma susceptibility in a Chinese pediatric population.

Translational Pediatrics

Zhang, Zhuorong Z; Huang, Yihuan Y; Chen, Honghao H; Wu, Ping P; Deng, Zhijian Z; Deng, Gaoyan G; Zheng, Yongqin Y; Li, Guoyuan G; Yuan, Li L; Xu, Yingyi Y

Publication Date: 2021-07

Variant appearance in text: rs2228001

PubMed Link: 34430438

Variant Present in the following documents:

• Main text
• tp-10-07-1896.pdf

View BVdb publication page

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The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports

Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL

Publication Date: 2021-09

Variant appearance in text: rs2228001

PubMed Link: 34295994

Variant Present in the following documents:

• Main text
• HSR2-4-e327.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: XPC: 2815C>A; Q939K; rs2228001

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Interaction of DNA Repair Gene XPC With Smoking and Betel Quid Chewing Behaviors of Oral Cancer.

Cancer Genomics & Proteomics

Wu, Cheng-Nan CN; Chang, Wen-Shin WS; Shih, Liang-Chun LC; Wang, Yun-Chi YC; Lee, Hsu-Tung HT; Yu, Chien-Chih CC; Wang, Zhi-Hong ZH; Mong, Mei-Chin MC; Hsia, Te-Chun TC; Tsai, Chia-Wen CW; Bau, DA-Tian DT

Publication Date: 2021

Variant appearance in text: rs2228001

PubMed Link: 33994366

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: XPC: Gln939Lys; rs2228001

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic analyses revealed novel human longevity loci and reduced risks of multiple diseases in a cohort study of 15,651 Chinese individuals.

Aging Cell

Liu, Xiaomin X; Song, Zijun Z; Li, Yan Y; Yao, Yao Y; Fang, Mingyan M; Bai, Chen C; An, Peng P; Chen, Huashuai H; Chen, Zhihua Z; Tang, Biyao B; Shen, Juan J; Gao, Xiaotong X; Zhang, Mingrong M; Chen, Pengyu P; Zhang, Tao T; Jia, Huijue H; Liu, Xiao X; Hou, Yong Y; Yang, Huanming H; Wang, Jian J; Wang, Fudi F; Xu, Xun X; Min, Junxia J; Nie, Chao C; Zeng, Yi Y

Publication Date: 2021-03

Variant appearance in text: rs2228001

PubMed Link: 33657282

Variant Present in the following documents:

• Main text
• ACEL-20-e13323-s014.xlsx, sheet 1

View BVdb publication page

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