Publications:

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Targeting the Ezrin Adaptor Protein Sensitizes Metastatic Breast Cancer Cells to Chemotherapy and Reduces Neoadjuvant Therapy-induced Metastasis.

Cancer Research Communications

Hoskin, Victoria V; Ghaffari, Abdi A; Laight, Brian J BJ; SenGupta, Sandip S; Madarnas, Yolanda Y; Nicol, Christopher J B CJB; Elliott, Bruce E BE; Varma, Sonal S; Greer, Peter A PA

Publication Date: 2022-06

Variant appearance in text: PTEN: L108R

PubMed Link: 36923551

Variant Present in the following documents:

• crc-21-0117-s01.pdf

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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: PTEN: 323T>G; L108R

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: PTEN: L108R

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 4

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: PTEN: L108R

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 4

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Extremely well-differentiated adenocarcinoma of the stomach: diagnostic pitfalls in endoscopic biopsy.

Journal Of Pathology And Translational Medicine

Lee, Jongwon J; Lee, In-Seob IS; Ahn, Ji Yong JY; Park, Young Soo YS; Kim, Jihun J

Publication Date: 2022-03

Variant appearance in text: PTEN: L108R

PubMed Link: 34775732

Variant Present in the following documents:

• Main text
• jptm-2021-10-12.pdf
• jptm-2021-10-12-suppl3.pdf

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: PTEN: 323T>G; L108R

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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Proliferative Classification of Intracranially Injected HER2-positive Breast Cancer Cell Lines.

Cancers

Kuroiwa, Yuka Y; Nakayama, Jun J; Adachi, Chihiro C; Inoue, Takafumi T; Watanabe, Shinya S; Semba, Kentaro K

Publication Date: 2020-07-06

Variant appearance in text: PTEN: L108R

PubMed Link: 32640677

Variant Present in the following documents:

• Main text
• cancers-12-01811.pdf

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Combined p53- and PTEN-deficiency activates expression of mesenchyme homeobox 1 (MEOX1) required for growth of triple-negative breast cancer.

The Journal Of Biological Chemistry

Gasparyan, Mari M; Lo, Miao-Chia MC; Jiang, Hui H; Lin, Chang-Ching CC; Sun, Duxin D

Publication Date: 2020-08-21

Variant appearance in text: PTEN: 323T>G; L108R

PubMed Link: 32467227

Variant Present in the following documents:

• Main text

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A systematic molecular and pharmacologic evaluation of AKT inhibitors reveals new insight into their biological activity.

British Journal Of Cancer

Kostaras, Eleftherios E; Kaserer, Teresa T; Lazaro, Glorianne G; Heuss, Sara Farrah SF; Hussain, Aasia A; Casado, Pedro P; Hayes, Angela A; Yandim, Cihangir C; Palaskas, Nicolaos N; Yu, Yi Y; Schwartz, Brian B; Raynaud, Florence F; Chung, Yuen-Li YL; Cutillas, Pedro R PR; Vivanco, Igor I

Publication Date: 2020-08

Variant appearance in text: PTEN: L108R

PubMed Link: 32439931

Variant Present in the following documents:

• 41416_2020_Article_889.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: PTEN: L108R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Morpho-Molecular Assessment Indicates New Prognostic Aspects and Personalized Therapeutic Options in Sinonasal Melanoma.

Cancers

Freiberger, Sandra N SN; Morand, Grégoire B GB; Turko, Patrick P; Wager, Ulrich U; Dummer, Reinhard R; Hüllner, Martin M; Holzmann, David D; Rupp, Niels J NJ; Levesque, Mitchell P MP

Publication Date: 2019-09-07

Variant appearance in text: PTEN: Leu108Arg

PubMed Link: 31500314

Variant Present in the following documents:

• Main text
• cancers-11-01329.pdf

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Structural and chemical insights into the covalent-allosteric inhibition of the protein kinase Akt.

Chemical Science

Uhlenbrock, Niklas N; Smith, Steven S; Weisner, Jörn J; Landel, Ina I; Lindemann, Marius M; Le, Thien Anh TA; Hardick, Julia J; Gontla, Rajesh R; Scheinpflug, Rebekka R; Czodrowski, Paul P; Janning, Petra P; Depta, Laura L; Quambusch, Lena L; Müller, Matthias P MP; Engels, Bernd B; Rauh, Daniel D

Publication Date: 2019-03-28

Variant appearance in text: PTEN: L108R

PubMed Link: 30996949

Variant Present in the following documents:

• Main text

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Oncogenic PIK3CA mutations increase dependency on the mRNA cap methyltransferase, RNMT, in breast cancer cells.

Open Biology

Dunn, Sianadh S; Lombardi, Olivia O; Lukoszek, Radoslaw R; Cowling, Victoria H VH

Publication Date: 2019-04-26

Variant appearance in text: PTEN: L108R

PubMed Link: 30991934

Variant Present in the following documents:

• Main text

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Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Peerj

Niyomnaitham, Suvimol S; Parinyanitikul, Napa N; Roothumnong, Ekkapong E; Jinda, Worapoj W; Samarnthai, Norasate N; Atikankul, Taywin T; Suktitipat, Bhoom B; Thongnoppakhun, Wanna W; Limwongse, Chanin C; Pithukpakorn, Manop M

Publication Date: 2019

Variant appearance in text: PTEN: L108R

PubMed Link: 30828495

Variant Present in the following documents:

• peerj-07-6501-s001.xlsx, sheet 9

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Contribution of allelic imbalance to colorectal cancer.

Nature Communications

Palin, Kimmo K; Pitkänen, Esa E; Turunen, Mikko M; Sahu, Biswajyoti B; Pihlajamaa, Päivi P; Kivioja, Teemu T; Kaasinen, Eevi E; Välimäki, Niko N; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Aavikko, Mervi M; Tuupanen, Sari S; Kilpivaara, Outi O; van den Berg, Linda L; Kondelin, Johanna J; Tanskanen, Tomas T; Katainen, Riku R; Grau, Marta M; Rauanheimo, Heli H; Plaketti, Roosa-Maria RM; Taira, Aurora A; Sulo, Päivi P; Hartonen, Tuomo T; Dave, Kashyap K; Schmierer, Bernhard B; Botla, Sandeep S; Sokolova, Maria M; Vähärautio, Anna A; Gladysz, Kornelia K; Ongen, Halit H; Dermitzakis, Emmanouil E; Bramsen, Jesper Bertram JB; Ørntoft, Torben Falck TF; Andersen, Claus Lindbjerg CL; Ristimäki, Ari A; Lepistö, Anna A; Renkonen-Sinisalo, Laura L; Mecklin, Jukka-Pekka JP; Taipale, Jussi J; Aaltonen, Lauri A LA

Publication Date: 2018-09-10

Variant appearance in text: PTEN: L108R

PubMed Link: 30202008

Variant Present in the following documents:

• 41467_2018_6132_MOESM11_ESM.xlsx, sheet 1

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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: PTEN: 323T>G; L108R

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s023.xlsx, sheet 1

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Oncogenic PI3K promotes methionine dependency in breast cancer cells through the cystine-glutamate antiporter xCT.

Science Signaling

Lien, Evan C EC; Ghisolfi, Laura L; Geck, Renee C RC; Asara, John M JM; Toker, Alex A

Publication Date: 2017-12-19

Variant appearance in text: PTEN: L108R

PubMed Link: 29259101

Variant Present in the following documents:

• Main text

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Vertical inhibition of the PI3K/Akt/mTOR pathway is synergistic in breast cancer.

Oncogenesis

Woo, S-U SU; Sangai, T T; Akcakanat, A A; Chen, H H; Wei, C C; Meric-Bernstam, F F

Publication Date: 2017-10-09

Variant appearance in text: PTEN: L108R

PubMed Link: 28991258

Variant Present in the following documents:

• Main text
• oncsis201786a.pdf

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Mutational heterogeneity in non-serous ovarian cancers.

Scientific Reports

Teer, Jamie K JK; Yoder, Sean S; Gjyshi, Anxhela A; Nicosia, Santo V SV; Zhang, Chaomei C; Monteiro, Alvaro N A ANA

Publication Date: 2017-08-29

Variant appearance in text: PTEN: L108R

PubMed Link: 28852190

Variant Present in the following documents:

• 41598_2017_10432_MOESM2_ESM.xlsx, sheet 10
• 41598_2017_10432_MOESM2_ESM.xlsx, sheet 3

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: PTEN: 323T>G; L108R

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations.

Oncotarget

Cosgarea, Ioana I; Ugurel, Selma S; Sucker, Antje A; Livingstone, Elisabeth E; Zimmer, Lisa L; Ziemer, Mirjana M; Utikal, Jochen J; Mohr, Peter P; Pfeiffer, Christiane C; Pföhler, Claudia C; Hillen, Uwe U; Horn, Susanne S; Schadendorf, Dirk D; Griewank, Klaus G KG; Roesch, Alexander A

Publication Date: 2017-06-20

Variant appearance in text: PTEN: L108R

PubMed Link: 28380455

Variant Present in the following documents:

• Main text
• oncotarget-08-40683.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: PTEN: 323T>G; L108R

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: PTEN: L108R

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: PTEN: L108R

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

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Discovery of novel AKT inhibitors with enhanced anti-tumor effects in combination with the MEK inhibitor.

Plos One

Dumble, Melissa M; Crouthamel, Ming-Chih MC; Zhang, Shu-Yun SY; Schaber, Michael M; Levy, Dana D; Robell, Kimberly K; Liu, Qi Q; Figueroa, David J DJ; Minthorn, Elisabeth A EA; Seefeld, Mark A MA; Rouse, Meagan B MB; Rabindran, Sridhar K SK; Heerding, Dirk A DA; Kumar, Rakesh R

Publication Date: 2014

Variant appearance in text: PTEN: L108R

PubMed Link: 24978597

Variant Present in the following documents:

• pone.0100880.s006.xlsx, sheet 1

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A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities.

Molecular Systems Biology

Vizeacoumar, Franco J FJ; Arnold, Roland R; Vizeacoumar, Frederick S FS; Chandrashekhar, Megha M; Buzina, Alla A; Young, Jordan T F JT; Kwan, Julian H M JH; Sayad, Azin A; Mero, Patricia P; Lawo, Steffen S; Tanaka, Hiromasa H; Brown, Kevin R KR; Baryshnikova, Anastasia A; Mak, Anthony B AB; Fedyshyn, Yaroslav Y; Wang, Yadong Y; Brito, Glauber C GC; Kasimer, Dahlia D; Makhnevych, Taras T; Ketela, Troy T; Datti, Alessandro A; Babu, Mohan M; Emili, Andrew A; Pelletier, Laurence L; Wrana, Jeff J; Wainberg, Zev Z; Kim, Philip M PM; Rottapel, Robert R; O'Brien, Catherine A CA; Andrews, Brenda B; Boone, Charles C; Moffat, Jason J

Publication Date: 2013-10-08

Variant appearance in text: PTEN: L108R

PubMed Link: 24104479

Variant Present in the following documents:

• msb201354-s13.xlsx, sheet 1

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mTORC1 inhibition is required for sensitivity to PI3K p110α inhibitors in PIK3CA-mutant breast cancer.

Science Translational Medicine

Elkabets, Moshe M; Vora, Sadhna S; Juric, Dejan D; Morse, Natasha N; Mino-Kenudson, Mari M; Muranen, Taru T; Tao, Jessica J; Campos, Ana Bosch AB; Rodon, Jordi J; Ibrahim, Yasir H YH; Serra, Violeta V; Rodrik-Outmezguine, Vanessa V; Hazra, Saswati S; Singh, Sharat S; Kim, Phillip P; Quadt, Cornelia C; Liu, Manway M; Huang, Alan A; Rosen, Neal N; Engelman, Jeffrey A JA; Scaltriti, Maurizio M; Baselga, José J

Publication Date: 2013-07-31

Variant appearance in text: PTEN: L108R

PubMed Link: 23903756

Variant Present in the following documents:

• Main text

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Elevated SGK1 predicts resistance of breast cancer cells to Akt inhibitors.

The Biochemical Journal

Sommer, Eeva M EM; Dry, Hannah H; Cross, Darren D; Guichard, Sylvie S; Davies, Barry R BR; Alessi, Dario R DR

Publication Date: 2013-06-15

Variant appearance in text: PTEN: L108R

PubMed Link: 23581296

Variant Present in the following documents:

• bj4520499add.pdf
• bj4520499.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: PTEN: L108R

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.

Science (New York, N.Y.)

Jiao, Yuchen Y; Shi, Chanjuan C; Edil, Barish H BH; de Wilde, Roeland F RF; Klimstra, David S DS; Maitra, Anirban A; Schulick, Richard D RD; Tang, Laura H LH; Wolfgang, Christopher L CL; Choti, Michael A MA; Velculescu, Victor E VE; Diaz, Luis A LA; Vogelstein, Bert B; Kinzler, Kenneth W KW; Hruban, Ralph H RH; Papadopoulos, Nickolas N

Publication Date: 2011-03-04

Variant appearance in text: PTEN: 323T>G; L108R

PubMed Link: 21252315

Variant Present in the following documents:

• Main text

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Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair.

Nature Genetics

Saal, Lao H LH; Gruvberger-Saal, Sofia K SK; Persson, Camilla C; Lövgren, Kristina K; Jumppanen, Mervi M; Staaf, Johan J; Jönsson, Göran G; Pires, Maira M MM; Maurer, Matthew M; Holm, Karolina K; Koujak, Susan S; Subramaniyam, Shivakumar S; Vallon-Christersson, Johan J; Olsson, Håkan H; Su, Tao T; Memeo, Lorenzo L; Ludwig, Thomas T; Ethier, Stephen P SP; Krogh, Morten M; Szabolcs, Matthias M; Murty, Vundavalli V V S VV; Isola, Jorma J; Hibshoosh, Hanina H; Parsons, Ramon R; Borg, Ake A

Publication Date: 2008-01

Variant appearance in text: PTEN: L108R

PubMed Link: 18066063

Variant Present in the following documents:

• Main text

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