Publications:

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TET2 Mutation May Be More Valuable in Predicting Thrombosis in ET Patients Compared to PV Patients: A Preliminary Report.

Journal Of Clinical Medicine

Wang, Ziqing Z; Liu, Weiyi W; Wang, Dehao D; Yang, Erpeng E; Li, Yujin Y; Li, Yumeng Y; Sun, Yan Y; Wang, Mingjing M; Lv, Yan Y; Hu, Xiaomei X

Publication Date: 2022-11-08

Variant appearance in text: JAK2: 1860C>A

PubMed Link: 36431092

Variant Present in the following documents:

• jcm-11-06615.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: JAK2: 1860C>A; D620E

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports

McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,

Publication Date: 2019-11-19

Variant appearance in text: JAK2: 1860C>A; D620E

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences

Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ

Publication Date: 2019

Variant appearance in text: JAK2: Asp620Glu

PubMed Link: 31681791

Variant Present in the following documents:

• Data_Sheet_5.pdf

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Development of a high resolution melting analysis assay for rapid identification of JAK2 V617F missense mutation and its validation.

Experimental Hematology & Oncology

Moradabadi, Alireza A; Farsinejad, Alireza A; Khansarinejad, Behzad B; Fatemi, Ahamd A

Publication Date: 2019

Variant appearance in text: JAK2: D620E

PubMed Link: 31165012

Variant Present in the following documents:

• Main text
• 40164_2019_Article_134.pdf

View BVdb publication page

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Detection of Exon 12 and 14 Mutations in Janus Kinase 2 Gene Including a Novel Mutant in V617F Negative Polycythemia Vera Patients from Pakistan.

Journal Of Cancer

Akram, Afia Muhammad AM; Kausar, Humera H; Chaudhary, Asma A; Khalid, Ahmad Mukhtar AM; Shahzad, Muhammad Mudassar MM; Akhtar, Muhammad Waheed MW; Sabar, Muhammad Farooq MF; Sajid, Nadia N; Anazi, Nawaf Al NA; Aleem, Aamer A; Iqbal, Zafar Z

Publication Date: 2018

Variant appearance in text: JAK2: D620E

PubMed Link: 30519338

Variant Present in the following documents:

• Main text
• jcav09p4341.pdf

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Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.

Virchows Archiv : An International Journal Of Pathology

Williams, Hannah L HL; Walsh, Kathy K; Diamond, Austin A; Oniscu, Anca A; Deans, Zandra C ZC

Publication Date: 2018-10

Variant appearance in text: JAK2: 1860C>A; D620E

PubMed Link: 30105577

Variant Present in the following documents:

• 428_2018_2411_MOESM3_ESM.xlsx, sheet 1
• 428_2018_2411_MOESM1_ESM.xlsx, sheet 4
• 428_2018_2411_MOESM4_ESM.xlsx, sheet 1
• 428_2018_2411_MOESM1_ESM.xlsx, sheet 3
• 428_2018_2411_MOESM2_ESM.xlsx, sheet 1

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: JAK2: 1860C>A; Asp620Glu

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s2.xlsx, sheet 9

View BVdb publication page

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Myelodysplastic Syndrome/Acute Myeloid Leukemia Arising in Idiopathic Erythrocytosis.

Case Reports In Hematology

Langabeer, Stephen E SE; Conneally, Eibhlin E; Flynn, Catherine M CM

Publication Date: 2018

Variant appearance in text: JAK2: D620E

PubMed Link: 29682367

Variant Present in the following documents:

• CRIHEM2018-4378310.pdf

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p.Y317H is a new JAK2 gain-of-function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation.

Haematologica

Eder-Azanza, Laura L; Hurtado, Cristina C; Navarro-Herrera, David D; Aranaz, Paula P; Novo, Francisco J FJ; Vizmanos, José L JL

Publication Date: 2017-08

Variant appearance in text: JAK2: D620E

PubMed Link: 28473624

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure of the pseudokinase-kinase domains from protein kinase TYK2 reveals a mechanism for Janus kinase (JAK) autoinhibition.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Lupardus, Patrick J PJ; Ultsch, Mark M; Wallweber, Heidi H; Bir Kohli, Pawan P; Johnson, Adam R AR; Eigenbrot, Charles C

Publication Date: 2014-06-03

Variant appearance in text: JAK2: D620E

PubMed Link: 24843152

Variant Present in the following documents:

• Main text

View BVdb publication page

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A multiplex snapback primer system for the enrichment and detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia-negative myeloproliferative neoplasms.

Biomed Research International

Wu, Zhiyuan Z; Zhang, Yunqing Y; Zhang, Xinju X; Xu, Xiao X; Kang, Zhihua Z; Li, Shibao S; Zhang, Chen C; Su, Bing B; Guan, Ming M

Publication Date: 2014

Variant appearance in text: JAK2: 1860C>A; D620E

PubMed Link: 24729973

Variant Present in the following documents:

• Main text
• BMRI2014-458457.pdf

View BVdb publication page

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Mechanistic insights into activation and SOCS3-mediated inhibition of myeloproliferative neoplasm-associated JAK2 mutants from biochemical and structural analyses.

The Biochemical Journal

Varghese, Leila N LN; Ungureanu, Daniela D; Liau, Nicholas P D NP; Young, Samuel N SN; Laktyushin, Artem A; Hammaren, Henrik H; Lucet, Isabelle S IS; Nicola, Nicos A NA; Silvennoinen, Olli O; Babon, Jeffrey J JJ; Murphy, James M JM

Publication Date: 2014-03-01

Variant appearance in text: JAK2: 1860C>A; D620E

PubMed Link: 24354892

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: JAK2: D620E

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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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: JAK2: D620E

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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High resolution melting analysis for JAK2 Exon 14 and Exon 12 mutations: a diagnostic tool for myeloproliferative neoplasms.

The Journal Of Molecular Diagnostics : Jmd

Rapado, Inmaculada I; Grande, Silvia S; Albizua, Enriqueta E; Ayala, Rosa R; Hernández, José-Angel JA; Gallardo, Miguel M; Gilsanz, Florinda F; Martinez-Lopez, Joaquin J

Publication Date: 2009-03

Variant appearance in text: JAK2: D620E

PubMed Link: 19225136

Variant Present in the following documents:

• Main text

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Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1.

Journal Of Cellular And Molecular Medicine

Tefferi, Ayalew A

Publication Date: 2009-02

Variant appearance in text: JAK2: D620E

PubMed Link: 19175693

Variant Present in the following documents:

• Main text

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Comparison of mutated ABL1 and JAK2 as oncogenes and drug targets in myeloproliferative disorders.

Leukemia

Walz, C C; Cross, N C P NC; Van Etten, R A RA; Reiter, A A

Publication Date: 2008-07

Variant appearance in text: JAK2: D620E

PubMed Link: 18528425

Variant Present in the following documents:

• Main text

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The diagnosis of BCR/ABL-negative chronic myeloproliferative diseases (CMPD): a comprehensive approach based on morphology, cytogenetics, and molecular markers.

Annals Of Hematology

Haferlach, Torsten T; Bacher, Ulrike U; Kern, Wolfgang W; Schnittger, Susanne S; Haferlach, Claudia C

Publication Date: 2008-01

Variant appearance in text: JAK2: D620E

PubMed Link: 17938925

Variant Present in the following documents:

• 277_2007_Article_403.pdf

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