Publications:

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs1050171

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 4

View BVdb publication page

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The effect of SNPs in lncRNA as ceRNA on the risk and prognosis of hepatocellular carcinoma.

Bmc Genomics

Mo, Han H; Wang, Xi X; Ji, Guohua G; Liang, Xiao X; Yang, Yi Y; Sun, Wenjing W; Jia, Xueyuan X; Xu, Lidan L; Qiao, Yuandong Y; Zhou, Henan H; Zhao, Wenhui W; Fu, Songbin S; Zhang, Xuelong X

Publication Date: 2022-11-24

Variant appearance in text: rs1050171

PubMed Link: 36418931

Variant Present in the following documents:

• Main text
• 12864_2022_Article_9010.pdf

View BVdb publication page

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Association between EGF and EGFR Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population.

Annals Of Dermatology

Won, Yong-Yon YY; Haw, Sik S; Chung, Joo-Ho JH; Lew, Bark-Lynn BL; Sim, Woo-Young WY

Publication Date: 2019-08

Variant appearance in text: rs1050171

PubMed Link: 33911638

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping data of routinely processed matched primary/metastatic tumor samples.

Data In Brief

Kotoula, Vassiliki V; Chatzopoulos, Kyriakos K; Papadopoulou, Kyriaki K; Giannoulatou, Eleni E; Koliou, Georgia-Angeliki GA; Karavasilis, Vasilios V; Pazarli, Elissavet E; Pervana, Stavroula S; Kafiri, Georgia G; Tsoulfas, Georgios G; Chrisafi, Sofia S; Sgouramali, Helen H; Papakostas, Pavlos P; Pectasides, Dimitrios D; Hytiroglou, Prodromos P; Pentheroudakis, George G; Fountzilas, George G

Publication Date: 2021-02

Variant appearance in text: rs1050171

PubMed Link: 33365374

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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: rs1050171

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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The combination of bevacizumab/Avastin and erlotinib/Tarceva is relevant for the treatment of metastatic renal cell carcinoma: the role of a synonymous mutation of the EGFR receptor.

Theranostics

Grépin, Renaud R; Guyot, Mélanie M; Dumond, Aurore A; Durivault, Jérôme J; Ambrosetti, Damien D; Roussel, Jean-François JF; Dupré, Florence F; Quintens, Hervé H; Pagès, Gilles G

Publication Date: 2020

Variant appearance in text: rs1050171

PubMed Link: 31938054

Variant Present in the following documents:

• Main text
• thnov10p1107.pdf

View BVdb publication page

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Association between epidermal growth factor (EGF) and EGF receptor gene polymorphisms and end-stage renal disease and acute renal allograft rejection in a Korean population.

Renal Failure

Kim, Byeong Woo BW; Kim, Su Kang SK; Heo, Kyung Wook KW; Bae, Ki Beom KB; Jeong, Kyung Hwan KH; Lee, Sang Ho SH; Kim, Tae Hee TH; Kim, Yeong Hoon YH; Kang, Sun Woo SW

Publication Date: 2020-11

Variant appearance in text: rs1050171

PubMed Link: 31906817

Variant Present in the following documents:

• Main text
• IRNF_42_1710535.pdf

View BVdb publication page

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Immune Resistance and EGFR Antagonists in Colorectal Cancer.

Cancers

Giordano, Guido G; Remo, Andrea A; Porras, Almudena A; Pancione, Massimo M

Publication Date: 2019-07-31

Variant appearance in text: rs1050171

PubMed Link: 31370270

Variant Present in the following documents:

• Main text
• cancers-11-01089.pdf

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: rs1050171

PubMed Link: 30814510

Variant Present in the following documents:

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

View BVdb publication page

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Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Heliyon

Deng, Qinfang Q; Xie, Boxiong B; Wu, Leilei L; Ji, Xianxiu X; Li, Chao C; Feng, Li L; Fang, Qiyu Q; Bao, Yuchen Y; Li, Jialu J; Jin, Shengnan S; Ding, Chunming C; Li, Yixue Y; Zhou, Songwen S

Publication Date: 2018-12

Variant appearance in text: EGFR: Q787H

PubMed Link: 30603682

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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: rs1050171

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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Denaturation-Enhanced Droplet Digital PCR for Liquid Biopsies.

Clinical Chemistry

Fitarelli-Kiehl, Mariana M; Yu, Fangyan F; Ashtaputre, Ravina R; Leong, Ka Wai KW; Ladas, Ioannis I; Supplee, Julianna J; Paweletz, Cloud C; Mitra, Devarati D; Schoenfeld, Jonathan D JD; Parangi, Sareh S; Makrigiorgos, G Mike GM

Publication Date: 2018-12

Variant appearance in text: rs1050171

PubMed Link: 30274976

Variant Present in the following documents:

• Main text

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: rs1050171

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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The Impact of EGFR Gene Polymorphisms on the Risk of Alzheimer's Disease in a Chinese Han Population: A Case-Controlled Study.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Chen, Xiuhong X; Wang, Changhai C; Zhou, Shuangbao S; Li, Xueyong X; Wu, Lan L

Publication Date: 2018-07-20

Variant appearance in text: rs1050171

PubMed Link: 30026459

Variant Present in the following documents:

• Main text
• medscimonit-24-5035.pdf

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: rs1050171

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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Identification of novel mutations in FFPE lung adenocarcinomas using DEPArray sorting technology and next-generation sequencing.

Journal Of Applied Genetics

Lee, Ji Won JW; Shin, Jong-Yeon JY; Seo, Jeong-Sun JS

Publication Date: 2018-08

Variant appearance in text: rs1050171

PubMed Link: 29525983

Variant Present in the following documents:

• 13353_2018_439_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted sequencing reveals genetic variants associated with sensitivity of 79 human cancer xenografts to anticancer drugs.

Experimental And Therapeutic Medicine

Udagawa, Chihiro C; Sasaki, Yasushi Y; Suemizu, Hiroshi H; Ohnishi, Yasuyuki Y; Ohnishi, Hiroshi H; Tokino, Takashi T; Zembutsu, Hitoshi H

Publication Date: 2018-02

Variant appearance in text: rs1050171

PubMed Link: 29434720

Variant Present in the following documents:

• Main text
• etm-15-02-1339.pdf

View BVdb publication page

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Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.

Oncotarget

Izquierdo, Elisa E; Yuan, Lina L; George, Sally S; Hubank, Michael M; Jones, Chris C; Proszek, Paula P; Shipley, Janet J; Gatz, Susanne A SA; Stinson, Caedyn C; Moore, Andrew S AS; Clifford, Steven C SC; Hicks, Debbie D; Lindsey, Janet C JC; Hill, Rebecca M RM; Jacques, Thomas S TS; Chalker, Jane J; Thway, Khin K; O'Connor, Simon S; Marshall, Lynley L; Moreno, Lucas L; Pearson, Andrew A; Chesler, Louis L; Walker, Brian A BA; De Castro, David Gonzalez DG

Publication Date: 2017-12-19

Variant appearance in text: rs1050171

PubMed Link: 29340109

Variant Present in the following documents:

• oncotarget-08-112036-s003.xlsx, sheet 1

View BVdb publication page

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Prevalence and detection of low-allele-fraction variants in clinical cancer samples.

Nature Communications

Shin, Hyun-Tae HT; Choi, Yoon-La YL; Yun, Jae Won JW; Kim, Nayoung K D NKD; Kim, Sook-Young SY; Jeon, Hyo Jeong HJ; Nam, Jae-Yong JY; Lee, Chung C; Ryu, Daeun D; Kim, Sang Cheol SC; Park, Kyunghee K; Lee, Eunjin E; Bae, Joon Seol JS; Son, Dae Soon DS; Joung, Je-Gun JG; Lee, Jeeyun J; Kim, Seung Tae ST; Ahn, Myung-Ju MJ; Lee, Se-Hoon SH; Ahn, Jin Seok JS; Lee, Woo Yong WY; Oh, Bo Young BY; Park, Yeon Hee YH; Lee, Jeong Eon JE; Lee, Kwang Hyuk KH; Kim, Hee Cheol HC; Kim, Kyoung-Mee KM; Im, Young-Hyuck YH; Park, Keunchil K; Park, Peter J PJ; Park, Woong-Yang WY

Publication Date: 2017-11-09

Variant appearance in text: rs1050171

PubMed Link: 29123093

Variant Present in the following documents:

• 41467_2017_1470_MOESM2_ESM.pdf

View BVdb publication page

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Genetic association analysis of the RTK/ERK pathway with aggressive prostate cancer highlights the potential role of CCND2 in disease progression.

Scientific Reports

Chen, Yang Y; Zhang, Qin Q; Wang, Qiuyan Q; Li, Jie J; Sipeky, Csilla C; Xia, Jihan J; Gao, Ping P; Hu, Yanling Y; Zhang, Haiying H; Yang, Xiaobo X; Chen, Haitao H; Jiang, Yonghua Y; Yang, Yuehong Y; Yao, Ziting Z; Chen, Yinchun Y; Gao, Yong Y; Tan, Aihua A; Liao, Ming M; Schleutker, Johanna J; Xu, Jianfeng J; Sun, Yinghao Y; Wei, Gong-Hong GH; Mo, Zengnan Z

Publication Date: 2017-07-03

Variant appearance in text: rs1050171

PubMed Link: 28674394

Variant Present in the following documents:

• Main text
• 41598_2017_Article_4731.pdf

View BVdb publication page

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Association Study of Polymorphisms of Epidermal Growth Factor and Epidermal Growth Factor Receptor With Benign Prostatic Hyperplasia in a Korean Population.

International Neurourology Journal

Kim, Su Kang SK; Park, Hyun Kyung HK; Choi, Han Sung HS; Yoo, Koo Han KH; Chung, Joo-Ho JH

Publication Date: 2016-12

Variant appearance in text: rs1050171

PubMed Link: 28043105

Variant Present in the following documents:

• Main text
• inj-1632538-269.pdf

View BVdb publication page

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Elimination of unaltered DNA in mixed clinical samples via nuclease-assisted minor-allele enrichment.

Nucleic Acids Research

Song, Chen C; Liu, Yibin Y; Fontana, Rachel R; Makrigiorgos, Alexander A; Mamon, Harvey H; Kulke, Matthew H MH; Makrigiorgos, G Mike GM

Publication Date: 2016-11-02

Variant appearance in text: rs1050171

PubMed Link: 27431322

Variant Present in the following documents:

• Main text
• supp_gkw650_nar-01371-met-g-2016-File007.pdf
• gkw650.pdf

View BVdb publication page

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Association of Polymorphisms in Connective Tissue Growth Factor and Epidermal Growth Factor Receptor Genes With Human Longevity.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences

Donlon, Timothy A TA; Morris, Brian J BJ; He, Qimei Q; Chen, Randi R; Masaki, Kamal H KH; Allsopp, Richard C RC; Willcox, D Craig DC; Tranah, Gregory J GJ; Parimi, Neeta N; Evans, Daniel S DS; Flachsbart, Friederike F; Nebel, Almut A; Kim, Duk-Hwan DH; Park, Joobae J; Willcox, Bradley J BJ

Publication Date: 2017-08-01

Variant appearance in text: rs1050171

PubMed Link: 27365368

Variant Present in the following documents:

• Main text

View BVdb publication page

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Quality control material for the detection of somatic mutations in fixed clinical specimens by next-generation sequencing.

Diagnostic Pathology

Dumur, Catherine I CI; Almenara, Jorge A JA; Powers, Celeste N CN; Ferreira-Gonzalez, Andrea A

Publication Date: 2015-09-17

Variant appearance in text: rs1050171

PubMed Link: 26376646

Variant Present in the following documents:

• Main text

View BVdb publication page

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Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: rs1050171

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s014.xlsx, sheet 1
• pone.0127146.s014.xlsx, sheet 4

View BVdb publication page

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MITF Modulates Therapeutic Resistance through EGFR Signaling.

The Journal Of Investigative Dermatology

Ji, Zhenyu Z; Erin Chen, Yiyin Y; Kumar, Raj R; Taylor, Michael M; Jenny Njauw, Ching-Ni CN; Miao, Benchun B; Frederick, Dennie T DT; Wargo, Jennifer A JA; Flaherty, Keith T KT; Jönsson, Göran G; Tsao, Hensin H

Publication Date: 2015-07

Variant appearance in text: rs1050171

PubMed Link: 25789707

Variant Present in the following documents:

• NIHMS670893-supplement-01.pdf

View BVdb publication page

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Single-Tube Mutation Scanning of The Epidermal Growth Factor Receptor Gene Using Multiplex LATE-PCR and Lights-On/Lights-Off Probes.

Journal Of Molecular Biomarkers & Diagnosis

Tetrault, Shana M SM; Rice, John E JE; Wangh, Lawrence J LJ; Sanchez, J Aquiles JA

Publication Date: 2014-05-01

Variant appearance in text: rs1050171

PubMed Link: 25411647

Variant Present in the following documents:

• Main text

View BVdb publication page

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KIT mutations in primary mediastinal B-cell lymphoma.

Blood Cancer Journal

Nagel, P D PD; Stenzinger, A A; Feld, F M FM; Herrmann, M D MD; Brüderlein, S S; Barth, T F E TF; Marienfeld, R R; Endris, V V; Weichert, W W; Debatin, K-M KM; Westhoff, M-A MA; Lessel, D D; Möller, P P; Lennerz, J K JK

Publication Date: 2014-08-22

Variant appearance in text: rs1050171

PubMed Link: 25148223

Variant Present in the following documents:

• bcj201461x2.xls, sheet 1

View BVdb publication page

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Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing.

American Journal Of Clinical Pathology

Lin, Ming-Tseh MT; Mosier, Stacy L SL; Thiess, Michele M; Beierl, Katie F KF; Debeljak, Marija M; Tseng, Li-Hui LH; Chen, Guoli G; Yegnasubramanian, Srinivasan S; Ho, Hao H; Cope, Leslie L; Wheelan, Sarah J SJ; Gocke, Christopher D CD; Eshleman, James R JR

Publication Date: 2014-06

Variant appearance in text: rs1050171

PubMed Link: 24838331

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients.

Genetics Research

Carneiro, Juliana G JG; Couto, Patricia G PG; Bastos-Rodrigues, Luciana L; Bicalho, Maria Aparecida C MA; Vidigal, Paula V PV; Vilhena, Alyne A; Amaral, Nilson F NF; Bale, Allen E AE; Friedman, Eitan E; De Marco, Luiz L

Publication Date: 2014

Variant appearance in text: rs1050171

PubMed Link: 24594201

Variant Present in the following documents:

• Main text

View BVdb publication page

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Relationship between EGF, TGFA, and EGFR Gene Polymorphisms and Traditional Chinese Medicine ZHENG in Gastric Cancer.

Evidence-Based Complementary And Alternative Medicine : Ecam

Zhang, Junfeng J; Zhan, Zhen Z; Wu, Juan J; Zhang, Chunbing C; Yang, Yaping Y; Tong, Shujuan S; Wang, Ruiping R; Yang, Xuewen X; Dong, Wei W; Chen, Yajun Y

Publication Date: 2013

Variant appearance in text: rs1050171

PubMed Link: 24454509

Variant Present in the following documents:

• Main text
• ECAM2013-731071.pdf

View BVdb publication page

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Epidermal growth factor receptor exon 20 mutation increased in post-chemotherapy patients with non-small cell lung cancer detected with patients' blood samples.

Translational Oncology

Wang, Ying Y; Bao, Wenlong W; Shi, Hua H; Jiang, Chuming C; Zhang, Yongjun Y

Publication Date: 2013-08

Variant appearance in text: rs1050171

PubMed Link: 23908693

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of epidermal growth factor and epidermal growth factor receptor polymorphisms with the risk of hepatitis B virus-related hepatocellular carcinoma in the population of North China.

Genetic Testing And Molecular Biomarkers

Wu, Jia J; Zhang, Wei W; Xu, Aiqiang A; Zhang, Li L; Yan, Tao T; Li, Zhuo Z; Wu, Xiaopan X; Zhu, Xilin X; Ma, Juan J; Li, Ke K; Li, Hui H; Liu, Ying Y

Publication Date: 2013-08

Variant appearance in text: rs1050171

PubMed Link: 23790025

Variant Present in the following documents:

• Main text

View BVdb publication page

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Overexpression of EGFR in head and neck squamous cell carcinoma is associated with inactivation of SH3GL2 and CDC25A genes.

Plos One

Maiti, Guru Prasad GP; Mondal, Pinaki P; Mukherjee, Nupur N; Ghosh, Amlan A; Ghosh, Susmita S; Dey, Sanjib S; Chakrabarty, Jayanta J; Roy, Anup A; Biswas, Jaydip J; Roychoudhury, Susanta S; Panda, Chinmay Kumar CK

Publication Date: 2013

Variant appearance in text: rs1050171

PubMed Link: 23675485

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evaluation of phosphatidylinositol-3-kinase catalytic subunit (PIK3CA) and epidermal growth factor receptor (EGFR) gene mutations in pancreaticobiliary adenocarcinoma.

Journal Of Gastrointestinal Oncology

Weiss, Guy A GA; Rossi, Michael R MR; Khushalani, Nikhil I NI; Lo, Ken K; Gibbs, John F JF; Bharthuar, Anubha A; Cowell, John K JK; Iyer, Renuka R

Publication Date: 2013-03

Variant appearance in text: rs1050171

PubMed Link: 23450128

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variations in the transforming growth factor beta pathway as predictors of bladder cancer risk.

Plos One

Wei, Hua H; Kamat, Ashish M AM; Aldousari, Saad S; Ye, Yuanqing Y; Huang, Maosheng M; Dinney, Colin P CP; Wu, Xifeng X

Publication Date: 2012

Variant appearance in text: rs1050171

PubMed Link: 23251617

Variant Present in the following documents:

• Main text
• pone.0051758.pdf

View BVdb publication page

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Antigenic and Genotypic Similarity between Primary Glioblastomas and Their Derived Neurospheres.

Journal Of Oncology

Caldera, Valentina V; Mellai, Marta M; Annovazzi, Laura L; Piazzi, Angela A; Lanotte, Michele M; Cassoni, Paola P; Schiffer, Davide D

Publication Date: 2011

Variant appearance in text: rs1050171

PubMed Link: 21869887

Variant Present in the following documents:

• Main text
• JO2011-314962.pdf

View BVdb publication page

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