Publications:

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: APC: 4630G>T; E1544*

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: APC: E1544X

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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Integrative characterization of intraductal tubulopapillary neoplasm (ITPN) of the pancreas and associated invasive adenocarcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Mafficini, Andrea A; Simbolo, Michele M; Shibata, Tatsuhiro T; Hong, Seung-Mo SM; Pea, Antonio A; Brosens, Lodewijk A LA; Cheng, Liang L; Antonello, Davide D; Sciammarella, Concetta C; Cantù, Cinzia C; Mattiolo, Paola P; Taormina, Sergio V SV; Malleo, Giuseppe G; Marchegiani, Giovanni G; Sereni, Elisabetta E; Corbo, Vincenzo V; Paolino, Gaetano G; Ciaparrone, Chiara C; Hiraoka, Nobuyoshi N; Pallaoro, Daniel D; Jansen, Casper C; Milella, Michele M; Salvia, Roberto R; Lawlor, Rita T RT; Adsay, Volkan V; Scarpa, Aldo A; Luchini, Claudio C

Publication Date: 2022-12

Variant appearance in text: APC: E1544*

PubMed Link: 36056133

Variant Present in the following documents:

• 41379_2022_Article_1143.pdf

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A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease

Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2022-04-22

Variant appearance in text: APC: E1544*

PubMed Link: 35459861

Variant Present in the following documents:

• 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3

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Genomic clonal evolution correlated with phenotype and prognosis in gastric cancer.

Clinical And Translational Medicine

Ge, Jie J; Li, Xuan X; Deng, Zhenghao Z; Gao, Xuan X; Liu, Yaoyao Y; Xiong, Xingui X; Zhao, Xianhui X; Peng, Huan H; Yi, Xin X; Xia, Xuefeng X; Chen, Zihua Z; Li, Lifeng L; Zhou, Haiyan H; Liu, Heli H

Publication Date: 2022-04

Variant appearance in text: APC: 4630G>T; E1544*

PubMed Link: 35384329

Variant Present in the following documents:

• CTM2-12-e799-s006.xlsx, sheet 2

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Crizotinib in patients with tumors harboring ALK or ROS1 rearrangements in the NCI-MATCH trial.

Npj Precision Oncology

Mansfield, A S AS; Wei, Z Z; Mehra, R R; Shaw, A T AT; Lieu, C H CH; Forde, P M PM; Drilon, A E AE; Mitchell, E P EP; Wright, J J JJ; Takebe, N N; Sharon, E E; Hovelson, D D; Tomlins, S S; Zeng, J J; Poorman, K K; Malik, N N; Gray, R J RJ; Li, S S; McShane, L M LM; Rubinstein, L V LV; Patton, D D; Williams, P M PM; Hamilton, S R SR; Conley, B A BA; Arteaga, C L CL; Harris, L N LN; O'Dwyer, P J PJ; Chen, A P AP; Flaherty, K T KT

Publication Date: 2022-03-01

Variant appearance in text: APC: Glu1544Ter

PubMed Link: 35233056

Variant Present in the following documents:

• 41698_2022_256_MOESM1_ESM.pdf

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Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.

Nature Genetics

Robinson, Philip S PS; Coorens, Tim H H THH; Palles, Claire C; Mitchell, Emily E; Abascal, Federico F; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Lawson, Andrew R J ARJ; Lee-Six, Henry H; Moore, Luiza L; Sanders, Mathijs A MA; Hewinson, James J; Martin, Lynn L; Pinna, Claudia M A CMA; Galavotti, Sara S; Rahbari, Raheleh R; Campbell, Peter J PJ; Martincorena, Iñigo I; Tomlinson, Ian I; Stratton, Michael R MR

Publication Date: 2021-10

Variant appearance in text: APC: E1544*

PubMed Link: 34594041

Variant Present in the following documents:

• 41588_2021_930_MOESM3_ESM.xlsx, sheet 3

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Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.

Nature Genetics

Robinson, Philip S PS; Coorens, Tim H H THH; Palles, Claire C; Mitchell, Emily E; Abascal, Federico F; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Lawson, Andrew R J ARJ; Lee-Six, Henry H; Moore, Luiza L; Sanders, Mathijs A MA; Hewinson, James J; Martin, Lynn L; Pinna, Claudia M A CMA; Galavotti, Sara S; Rahbari, Raheleh R; Campbell, Peter J PJ; Martincorena, Iñigo I; Tomlinson, Ian I; Stratton, Michael R MR

Publication Date: 2021-10

Variant appearance in text: APC: E1544*

PubMed Link: 34594041

Variant Present in the following documents:

• 41588_2021_930_MOESM3_ESM.xlsx, sheet 3

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Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.

Scientific Reports

Lim, Yoojoo Y; Kim, Sheehyun S; Kang, Jun-Kyu JK; Kim, Hwang-Phill HP; Jang, Hoon H; Han, Hyojun H; Kim, Hyoki H; Kim, Min Jung MJ; Lee, Kyung-Hun KH; Ryoo, Seung-Bum SB; Park, Ji Won JW; Jeong, Seung-Yong SY; Park, Kyu Joo KJ; Kang, Gyeong Hoon GH; Han, Sae-Won SW; Kim, Tae-You TY

Publication Date: 2021-08-11

Variant appearance in text: APC: 4630G>T; Glu1544*

PubMed Link: 34381078

Variant Present in the following documents:

• 41598_2021_95345_MOESM5_ESM.xlsx, sheet 1

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Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology

Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH

Publication Date: 2021-05-17

Variant appearance in text: APC: E1544*

PubMed Link: 34001194

Variant Present in the following documents:

• 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: APC: 4630G>T; E1544*

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: APC: 4630G>T; E1544*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: APC: E1544*

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

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Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: APC: E1544*

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

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Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Genome Research

Boot, Arnoud A; Ng, Alvin W T AWT; Chong, Fui Teen FT; Ho, Szu-Chi SC; Yu, Willie W; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Rozen, Steven G SG

Publication Date: 2020-06

Variant appearance in text: APC: E1544X

PubMed Link: 32661091

Variant Present in the following documents:

• supp_gr.255620.119_Supplemental_Table_S2.xlsx, sheet 1

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: APC: E1544*

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: APC: 4630G>T; E1544*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: APC: E1544*

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 12

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Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Gut

Kleeman, Sam O SO; Koelzer, Viktor H VH; Jones, Helen Js HJ; Vazquez, Ester Gil EG; Davis, Hayley H; East, James E JE; Arnold, Roland R; Koppens, Martijn Aj MA; Blake, Andrew A; Domingo, Enric E; Cunningham, Chris C; Beggs, Andrew D AD; Pestinger, Valerie V; Loughrey, Maurice B MB; Wang, Lai-Mun LM; Lannagan, Tamsin Rm TR; Woods, Susan L SL; Worthley, Daniel D; Consortium, S Cort SC; Tomlinson, Ian I; Dunne, Philip D PD; Maughan, Timothy T; Leedham, Simon J SJ

Publication Date: 2020-06

Variant appearance in text: APC: 4630G>T; Glu1544Ter

PubMed Link: 31563876

Variant Present in the following documents:

• gutjnl-2019-319126supp003.xlsx, sheet 3

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Molecular characterization of colorectal cancer using whole-exome sequencing in a Taiwanese population.

Cancer Medicine

Chang, Ya-Sian YS; Lee, Chien-Chin CC; Ke, Tao-Wei TW; Chang, Chieh-Min CM; Chao, Dy-San DS; Huang, Hsi-Yuan HY; Chang, Jan-Gowth JG

Publication Date: 2019-07

Variant appearance in text: APC: E1544*

PubMed Link: 31127692

Variant Present in the following documents:

• Main text
• CAM4-8-3738.pdf

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Computational development of a molecular-based approach to improve risk stratification of endometrial cancer patients.

Oncotarget

Torricelli, Federica F; Nicoli, Davide D; Bellazzi, Riccardo R; Ciarrocchi, Alessia A; Farnetti, Enrico E; Mastrofilippo, Valentina V; Zamponi, Raffaella R; La Sala, Giovanni Battista GB; Casali, Bruno B; Mandato, Vincenzo Dario VD

Publication Date: 2018-05-22

Variant appearance in text: APC: 4630G>T

PubMed Link: 29876005

Variant Present in the following documents:

• oncotarget-09-25517-s001.pdf

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: APC: 4630G>T; E1544*

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s021.xlsx, sheet 1

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Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Genome Medicine

Li, Shuyu D SD; Ma, Meng M; Li, Hui H; Waluszko, Aneta A; Sidorenko, Tatyana T; Schadt, Eric E EE; Zhang, David Y DY; Chen, Rong R; Ye, Fei F

Publication Date: 2017-10-30

Variant appearance in text: APC: 4630G>T; E1544*

PubMed Link: 29082853

Variant Present in the following documents:

• 13073_2017_478_MOESM1_ESM.xlsx, sheet 2

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Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Genome Medicine

Chalmers, Zachary R ZR; Connelly, Caitlin F CF; Fabrizio, David D; Gay, Laurie L; Ali, Siraj M SM; Ennis, Riley R; Schrock, Alexa A; Campbell, Brittany B; Shlien, Adam A; Chmielecki, Juliann J; Huang, Franklin F; He, Yuting Y; Sun, James J; Tabori, Uri U; Kennedy, Mark M; Lieber, Daniel S DS; Roels, Steven S; White, Jared J; Otto, Geoffrey A GA; Ross, Jeffrey S JS; Garraway, Levi L; Miller, Vincent A VA; Stephens, Phillip J PJ; Frampton, Garrett M GM

Publication Date: 2017-04-19

Variant appearance in text: APC: E1544*

PubMed Link: 28420421

Variant Present in the following documents:

• 13073_2017_424_MOESM7_ESM.xlsx, sheet 1

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Molecular profiling of advanced solid tumors and patient outcomes with genotype-matched clinical trials: the Princess Margaret IMPACT/COMPACT trial.

Genome Medicine

Stockley, Tracy L TL; Oza, Amit M AM; Berman, Hal K HK; Leighl, Natasha B NB; Knox, Jennifer J JJ; Shepherd, Frances A FA; Chen, Eric X EX; Krzyzanowska, Monika K MK; Dhani, Neesha N; Joshua, Anthony M AM; Tsao, Ming-Sound MS; Serra, Stefano S; Clarke, Blaise B; Roehrl, Michael H MH; Zhang, Tong T; Sukhai, Mahadeo A MA; Califaretti, Nadia N; Trinkaus, Mateya M; Shaw, Patricia P; van der Kwast, Theodorus T; Wang, Lisa L; Virtanen, Carl C; Kim, Raymond H RH; Razak, Albiruni R A AR; Hansen, Aaron R AR; Yu, Celeste C; Pugh, Trevor J TJ; Kamel-Reid, Suzanne S; Siu, Lillian L LL; Bedard, Philippe L PL

Publication Date: 2016-10-25

Variant appearance in text: APC: E1544X

PubMed Link: 27782854

Variant Present in the following documents:

• Main text
• 13073_2016_Article_364.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: APC: 4630G>T; E1544*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: APC: E1544*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

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Validation and utilisation of high-coverage next-generation sequencing to deliver the pharmacological audit trail.

British Journal Of Cancer

Ong, M M; Carreira, S S; Goodall, J J; Mateo, J J; Figueiredo, I I; Rodrigues, D N DN; Perkins, G G; Seed, G G; Yap, T A TA; Attard, G G; de Bono, J S JS

Publication Date: 2014-08-26

Variant appearance in text: APC: E1544*

PubMed Link: 24983367

Variant Present in the following documents:

• Main text
• bjc2014350a.pdf

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Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.

Plos One

Han, Sae-Won SW; Kim, Hwang-Phill HP; Shin, Jong-Yeon JY; Jeong, Eun-Goo EG; Lee, Won-Chul WC; Lee, Kyung-Hun KH; Won, Jae-Kyung JK; Kim, Tae-Yong TY; Oh, Do-Youn DY; Im, Seock-Ah SA; Bang, Yung-Jue YJ; Jeong, Seung-Yong SY; Park, Kyu Joo KJ; Park, Jae-Gahb JG; Kang, Gyeong Hoon GH; Seo, Jeong-Sun JS; Kim, Jong-Il JI; Kim, Tae-You TY

Publication Date: 2013

Variant appearance in text: APC: E1544*

PubMed Link: 23700467

Variant Present in the following documents:

• pone.0064271.s004.xlsx, sheet 1

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