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: EZH2: D185H

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs2302427

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Polycomb Alterations in Acute Myeloid Leukaemia: From Structure to Function.

Cancers

Bhattacharyya, Teerna T; Bond, Jonathan J

Publication Date: 2023-03-09

Variant appearance in text: EZH2: D185H

PubMed Link: 36980579

Variant Present in the following documents:

• cancers-15-01693.pdf

View BVdb publication page

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Recent advances in prostate cancer: WNT signaling, chromatin regulation, and transcriptional coregulators.

Asian Journal Of Andrology

Takahashi, Sayuri S; Takada, Ichiro I

Publication Date: 2023-01-20

Variant appearance in text: rs2302427

PubMed Link: 36695247

Variant Present in the following documents:

• Main text

View BVdb publication page

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EZH2: An Accomplice of Gastric Cancer.

Cancers

Yu, Wuhan W; Liu, Ning N; Song, Xiaogang X; Chen, Lang L; Wang, Mancai M; Xiao, Guohui G; Li, Tengfei T; Wang, Zheyuan Z; Zhang, Youcheng Y

Publication Date: 2023-01-09

Variant appearance in text: EZH2: D185H; rs2302427

PubMed Link: 36672374

Variant Present in the following documents:

• Main text
• cancers-15-00425.pdf

View BVdb publication page

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Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine

Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y

Publication Date: 2022

Variant appearance in text: EZH2: D185H

PubMed Link: 36277747

Variant Present in the following documents:

• Data_Sheet_1.xls, sheet 1

View BVdb publication page

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Case report: CD19-directed CAR-T cell therapy combined with BTK inhibitor and PD-1 antibody against secondary central nervous system lymphoma.

Frontiers In Immunology

Zhang, Wenqi W; Huang, Chen C; Liu, Ruixia R; Zhang, Huichao H; Li, Weijing W; Yin, Shaoning S; Wang, Lianjing L; Liu, Wei W; Liu, Lihong L

Publication Date: 2022

Variant appearance in text: rs2302427

PubMed Link: 36275715

Variant Present in the following documents:

• Main text
• fimmu-13-983934.pdf

View BVdb publication page

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Case report: A rare case of acute myeloid leukemia with CPSF6-RARG fusion resembling acute promyelocytic leukemia.

Frontiers In Oncology

Zhao, Junmei J; Wang, Wentao W; Yan, Li L; Chen, Xi X; Li, Wen W; Li, Wanying W; Chen, Tingting T; Chen, Lunhua L

Publication Date: 2022

Variant appearance in text: EZH2: D185H

PubMed Link: 36185228

Variant Present in the following documents:

• Main text
• fonc-12-1011023.pdf

View BVdb publication page

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Genetics and clinical phenotype of Erdheim-Chester disease: A case report of constrictive pericarditis and a systematic review of the literature.

Frontiers In Cardiovascular Medicine

Bartoli, Lorenzo L; Angeli, Francesco F; Stefanizzi, Andrea A; Fabrizio, Michele M; Paolisso, Pasquale P; Bergamaschi, Luca L; Broccoli, Alessandro A; Zinzani, Pier Luigi PL; Galiè, Nazzareno N; Rucci, Paola P; Foà, Alberto A; Pizzi, Carmine C

Publication Date: 2022

Variant appearance in text: EZH2: Asp185His

PubMed Link: 36035941

Variant Present in the following documents:

• Main text
• fcvm-09-876294.pdf

View BVdb publication page

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Analysis of EZH2 Genetic Variants on Triple-Negative Breast Cancer Susceptibility and Pathology.

International Journal Of Medical Sciences

Liu, Liang-Chih LC; Chien, Yi-Chung YC; Wu, Guo-Wei GW; Hua, Chun-Hung CH; Tsai, I-Chen IC; Hung, Chih-Chiang CC; Wu, Tsai-Kun TK; Pan, Ying-Ru YR; Yang, Shun-Fa SF; Yu, Yung-Luen YL

Publication Date: 2022

Variant appearance in text: EZH2: D185H; rs2302427

PubMed Link: 35813302

Variant Present in the following documents:

• ijmsv19p1023.pdf

View BVdb publication page

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Plasma Concentrations and Cancer-Associated Mutations in Cell-Free Circulating DNA of Treatment-Naive Follicular Lymphoma for Improved Non-Invasive Diagnosis and Prognosis.

Frontiers In Oncology

Hatipoğlu, Tevfik T; Esmeray Sönmez, Esra E; Hu, Xiaozhou X; Yuan, Hongling H; Danyeli, Ayça Erşen AE; Şeyhanlı, Ahmet A; Önal-Süzek, Tuğba T; Zhang, Weiwei W; Akman, Burcu B; Olgun, Aybüke A; Özkal, Sermin S; Alacacıoğlu, İnci İ; Özcan, Mehmet Ali MA; You, Hua H; Küçük, Can C

Publication Date: 2022

Variant appearance in text: EZH2: D185H

PubMed Link: 35795062

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 2

View BVdb publication page

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Designing highly multiplex PCR primer sets with Simulated Annealing Design using Dimer Likelihood Estimation (SADDLE).

Nature Communications

Xie, Nina G NG; Wang, Michael X MX; Song, Ping P; Mao, Shiqi S; Wang, Yifan Y; Yang, Yuxia Y; Luo, Junfeng J; Ren, Shengxiang S; Zhang, David Yu DY

Publication Date: 2022-04-11

Variant appearance in text: EZH2: 553G>C

PubMed Link: 35410464

Variant Present in the following documents:

• 41467_2022_29500_MOESM5_ESM.xlsx, sheet 8

View BVdb publication page

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: EZH2: 553G>C; D185H

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: EZH2: 553G>C; Asp185His; rs2302427

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Circulating Tumor DNA-Based Genotyping and Monitoring for Predicting Disease Relapses of Patients with Peripheral T-Cell Lymphomas.

Cancer Research And Treatment

Kim, Seok Jin SJ; Kim, Yeon Jeong YJ; Yoon, Sang Eun SE; Ryu, Kyung Ju KJ; Park, Bon B; Park, Donghyun D; Cho, Duck D; Kim, Hyun-Young HY; Cho, Junhun J; Ko, Young Hyeh YH; Park, Woong-Yang WY; Kim, Won Seog WS

Publication Date: 2022-03-02

Variant appearance in text: EZH2: D185H

PubMed Link: 35240014

Variant Present in the following documents:

• crt-2022-017.pdf

View BVdb publication page

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Identification of a novel HOOK3-FGFR1 fusion gene involved in activation of the NF-kappaB pathway.

Cancer Cell International

Zhang, Xuehong X; Wang, Furong F; Yan, Fanzhi F; Huang, Dan D; Wang, Haina H; Gao, Beibei B; Gao, Yuan Y; Hou, Zhijie Z; Lou, Jiacheng J; Li, Weiling W; Yan, Jinsong J

Publication Date: 2022-01-26

Variant appearance in text: EZH2: D185H; rs2302427

PubMed Link: 35081975

Variant Present in the following documents:

• 12935_2022_2451_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.

Bmc Genomics

Anwar, Nida N; Memon, Faheem Ahmed FA; Shahid, Saba S; Shakeel, Muhammad M; Irfan, Muhammad M; Arshad, Aisha A; Naz, Arshi A; Ujjan, Ikram Din ID; Shamsi, Tahir T

Publication Date: 2021-12-16

Variant appearance in text: EZH2: 553G>C

PubMed Link: 34915860

Variant Present in the following documents:

• 12864_2021_Article_8221.pdf

View BVdb publication page

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The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.

Bmc Genomics

Anwar, Nida N; Memon, Faheem Ahmed FA; Shahid, Saba S; Shakeel, Muhammad M; Irfan, Muhammad M; Arshad, Aisha A; Naz, Arshi A; Ujjan, Ikram Din ID; Shamsi, Tahir T

Publication Date: 2021-12-16

Variant appearance in text: EZH2: 553G>C

PubMed Link: 34915860

Variant Present in the following documents:

• 12864_2021_Article_8221.pdf

View BVdb publication page

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Calibration-free NGS quantitation of mutations below 0.01% VAF.

Nature Communications

Dai, Peng P; Wu, Lucia Ruojia LR; Chen, Sherry Xi SX; Wang, Michael Xiangjiang MX; Cheng, Lauren Yuxuan LY; Zhang, Jinny Xuemeng JX; Hao, Pengying P; Yao, Weijie W; Zarka, Jabra J; Issa, Ghayas C GC; Kwong, Lawrence L; Zhang, David Yu DY

Publication Date: 2021-10-21

Variant appearance in text: EZH2: 553G>C; D185H

PubMed Link: 34675197

Variant Present in the following documents:

• 41467_2021_26308_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of Relationships between Immune Checkpoint and Methylase Gene Polymorphisms and Outcomes after Unrelated Bone Marrow Transplantation.

Cancers

Takahashi, Hidekazu H; Okayama, Naoko N; Yamaguchi, Natsu N; Nomura, Moe M; Miyahara, Yuta Y; Mahbub, M H MH; Hase, Ryosuke R; Morishima, Yasuo Y; Suehiro, Yutaka Y; Yamasaki, Takahiro T; Tamada, Koji K; Takahashi, Satoshi S; Tojo, Arinobu A; Tanabe, Tsuyoshi T

Publication Date: 2021-06-01

Variant appearance in text: EZH2: D185H; rs2302427

PubMed Link: 34206082

Variant Present in the following documents:

• Main text
• cancers-13-02752.pdf

View BVdb publication page

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First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics

Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X

Publication Date: 2021-05-17

Variant appearance in text: EZH2: D185H; rs2302427

PubMed Link: 34001105

Variant Present in the following documents:

• 12920_2021_979_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Current views on the genetic landscape and management of variant acute promyelocytic leukemia.

Biomarker Research

Zhang, Xiang X; Sun, Jiewen J; Yu, Wenjuan W; Jin, Jie J

Publication Date: 2021-05-06

Variant appearance in text: EZH2: D185H

PubMed Link: 33957999

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single-center experience with venetoclax combinations in patients with newly diagnosed and relapsed AML evolving from MPNs.

Blood Advances

Masarova, Lucia L; DiNardo, Courtney D CD; Bose, Prithviraj P; Pemmaraju, Naveen N; Daver, Naval G NG; Kadia, Tapan M TM; Chifotides, Helen T HT; Zhou, Lingsha L; Borthakur, Gautam G; Estrov, Zeev Z; Konopleva, Marina M; Verstovsek, Srdan S

Publication Date: 2021-04-27

Variant appearance in text: EZH2: D185H

PubMed Link: 33885751

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: EZH2: D185H; rs2302427

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

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: EZH2: D185H; rs2302427

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study.

Frontiers In Oncology

Cattaneo, Daniele D; Croci, Giorgio Alberto GA; Bucelli, Cristina C; Tabano, Silvia S; Cannone, Marta Giulia MG; Gaudioso, Gabriella G; Barbanti, Maria Chiara MC; Barbullushi, Kordelia K; Bianchi, Paola P; Fermo, Elisa E; Fabris, Sonia S; Baldini, Luca L; Gianelli, Umberto U; Iurlo, Alessandra A

Publication Date: 2021

Variant appearance in text: EZH2: 553G>C; D185H; rs2302427

PubMed Link: 33791220

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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EZH2 inactivation in RAS-driven myeloid neoplasms hyperactivates RAS-signaling and increases MEK inhibitor sensitivity.

Leukemia

Berg, Johannes Lorenz JL; Perfler, Bianca B; Hatzl, Stefan S; Uhl, Barbara B; Reinisch, Andreas A; Pregartner, Gudrun G; Berghold, Andrea A; Penz, Thomas T; Schuster, Michael M; Geissler, Klaus K; Prokesch, Andreas A; Müller-Tidow, Carsten C; Hoefler, Gerald G; Kashofer, Karl K; Wölfler, Albert A; Sill, Heinz H; Caraffini, Veronica V; Zebisch, Armin A

Publication Date: 2021-05

Variant appearance in text: EZH2: D185H

PubMed Link: 33589750

Variant Present in the following documents:

• 41375_2021_1161_MOESM1_ESM.pdf

View BVdb publication page

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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: EZH2: 553G>C; D185H

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project

Haematologica

Sargas, Claudia C; Ayala, Rosa R; Chillón, María Carmen MC; Larráyoz, María J MJ; Carrillo-Cruz, Estrella E; Bilbao, Cristina C; Yébenes-Ramírez, Manuel M; Llop, Marta M; Rapado, Inmaculada I; García-Sanz, Ramón R; Vázquez, Iria I; Soria, Elena E; Florido-Ortega, Yanira Y; Janusz, Kamila K; Botella, Carmen C; Serrano, Josefina J; Martínez-Cuadrón, David D; Bergua, Juan J; Amigo, Mari Luz ML; Martínez-Sánchez, Pilar P; Tormo, Mar M; Bernal, Teresa T; Herrera-Puente, Pilar P; García, Raimundo R; Algarra, Lorenzo L; Sayas, María J MJ; Costilla-Barriga, Lisette L; Pérez-Santolalla, Esther E; Marchante, Inmaculada I; Lavilla-Rubira, Esperanza E; Noriega, Víctor V; Alonso-Domínguez, Juan M JM; Sanz, Miguel Á MÁ; Sánchez-Garcia, Joaquín J; Gómez-Casares, María T MT; Pérez-Simón, José A JA; Calasanz, María J MJ; González-Díaz, Marcos M; Martínez-López, Joaquín J; Barragán, Eva E; Montesinos, Pau P

Publication Date: 2021-12-01

Variant appearance in text: EZH2: 553G>C; Asp185His

PubMed Link: 33179471

Variant Present in the following documents:

• 1063079.pdf
• 2020_263806_SARGAS_SUPPL.pdf

View BVdb publication page

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Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project

Haematologica

Sargas, Claudia C; Ayala, Rosa R; Chillón, María Carmen MC; Larráyoz, María J MJ; Carrillo-Cruz, Estrella E; Bilbao, Cristina C; Yébenes-Ramírez, Manuel M; Llop, Marta M; Rapado, Inmaculada I; García-Sanz, Ramón R; Vázquez, Iria I; Soria, Elena E; Florido-Ortega, Yanira Y; Janusz, Kamila K; Botella, Carmen C; Serrano, Josefina J; Martínez-Cuadrón, David D; Bergua, Juan J; Amigo, Mari Luz ML; Martínez-Sánchez, Pilar P; Tormo, Mar M; Bernal, Teresa T; Herrera-Puente, Pilar P; García, Raimundo R; Algarra, Lorenzo L; Sayas, María J MJ; Costilla-Barriga, Lisette L; Pérez-Santolalla, Esther E; Marchante, Inmaculada I; Lavilla-Rubira, Esperanza E; Noriega, Víctor V; Alonso-Domínguez, Juan M JM; Sanz, Miguel Á MÁ; Sánchez-Garcia, Joaquín J; Gómez-Casares, María T MT; Pérez-Simón, José A JA; Calasanz, María J MJ; González-Díaz, Marcos M; Martínez-López, Joaquín J; Barragán, Eva E; Montesinos, Pau P

Publication Date: 2021-12-01

Variant appearance in text: EZH2: 553G>C; Asp185His

PubMed Link: 33179471

Variant Present in the following documents:

• 2020_263806_SARGAS_SUPPL.pdf
• 1063079.pdf

View BVdb publication page

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: EZH2: 553G>C; D185H

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of Circulating Tumor DNA to Predict Neoadjuvant Therapy Effectiveness and Breast Cancer Recurrence.

Journal Of Breast Cancer

Hao, Shuai S; Tian, Wuguo W; Zhao, Jianjie J; Chen, Yi Y; Zhang, Xiaohua X; Gao, Bo B; He, Yujun Y; Luo, Donglin D

Publication Date: 2020-08

Variant appearance in text: EZH2: 553G>C; D185H; rs2302427

PubMed Link: 32908788

Variant Present in the following documents:

• jbc-23-373-s004.xls, sheet 1

View BVdb publication page

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IKKε and TBK1 in diffuse large B-cell lymphoma: A possible mechanism of action of an IKKε/TBK1 inhibitor to repress NF-κB and IL-10 signalling.

Journal Of Cellular And Molecular Medicine

Carr, Matthew M; Mamand, Sami S; Chapman, Kathryn L KL; Perrior, Trevor T; Wagner, Simon D SD

Publication Date: 2020-10

Variant appearance in text: EZH2: D185H

PubMed Link: 32858764

Variant Present in the following documents:

• JCMM-24-11573-s001.pdf

View BVdb publication page

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Plasma circulating tumor DNA assessment reveals KMT2D as a potential poor prognostic factor in extranodal NK/T-cell lymphoma.

Biomarker Research

Li, Qiong Q; Zhang, Wei W; Li, Jiali J; Xiong, Jingkang J; Liu, Jia J; Chen, Ting T; Wen, Qin Q; Zeng, Yunjing Y; Gao, Li L; Gao, Lei L; Zhang, Cheng C; Kong, Peiyan P; Peng, Xiangui X; Liu, Yao Y; Zhang, Xi X; Rao, Jun J

Publication Date: 2020

Variant appearance in text: EZH2: D185H

PubMed Link: 32695399

Variant Present in the following documents:

• Main text
• 40364_2020_Article_205.pdf

View BVdb publication page

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A novel targeted RNA-Seq panel identifies a subset of adult patients with acute lymphoblastic leukemia with BCR-ABL1-like characteristics.

Blood Cancer Journal

Sánchez, Ricardo R; Ribera, Jordi J; Morgades, Mireia M; Ayala, Rosa R; Onecha, Esther E; Ruiz-Heredia, Yanira Y; Juárez-Rufián, Alexandra A; de Nicolás, Rodrigo R; Sánchez-Pina, José J; Vives, Susana S; Zamora, Lurdes L; Mercadal, Santiago S; Coll, Rosa R; Cervera, Marta M; García, Olga O; Ribera, Josep-Maria JM; Martínez-López, Joaquín J

Publication Date: 2020-04-24

Variant appearance in text: EZH2: 553G>C; D185H

PubMed Link: 32332702

Variant Present in the following documents:

• 41408_2020_308_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: EZH2: 553G>C; Asp185His

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Epigenetic activation of O-linked β-N-acetylglucosamine transferase overrides the differentiation blockage in acute leukemia.

Ebiomedicine

Kampa-Schittenhelm, K M KM; Haverkamp, T T; Bonin, M M; Tsintari, V V; Bühring, H J HJ; Haeusser, L L; Blumenstock, G G; Dreher, S T ST; Ganief, T T; Akmut, F F; Illing, B B; Mau-Holzmann, U A UA; Bonzheim, I I; Schleicher, E E; Vogel, W W; Schittenhelm, M M MM

Publication Date: 2020-04

Variant appearance in text: rs2302427

PubMed Link: 32272438

Variant Present in the following documents:

• Main text

View BVdb publication page

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DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

American Journal Of Human Genetics

Choufani, Sanaa S; Gibson, William T WT; Turinsky, Andrei L AL; Chung, Brian H Y BHY; Wang, Tianren T; Garg, Kopal K; Vitriolo, Alessandro A; Cohen, Ana S A ASA; Cyrus, Sharri S; Goodman, Sarah S; Chater-Diehl, Eric E; Brzezinski, Jack J; Brudno, Michael M; Ming, Luk Ho LH; White, Susan M SM; Lynch, Sally Ann SA; Clericuzio, Carol C; Temple, I Karen IK; Flinter, Frances F; McConnell, Vivienne V; Cushing, Tom T; Bird, Lynne M LM; Splitt, Miranda M; Kerr, Bronwyn B; Scherer, Stephen W SW; Machado, Jerry J; Imagawa, Eri E; Okamoto, Nobuhiko N; Matsumoto, Naomichi N; Testa, Guiseppe G; Iascone, Maria M; Tenconi, Romano R; Caluseriu, Oana O; Mendoza-Londono, Roberto R; Chitayat, David D; Cytrynbaum, Cheryl C; Tatton-Brown, Katrina K; Weksberg, Rosanna R

Publication Date: 2020-05-07

Variant appearance in text: EZH2: 553G>C; Asp185His

PubMed Link: 32243864

Variant Present in the following documents:

• Main text
• mmc3.pdf
• main.pdf
• mmc2.xlsx, sheet 9

View BVdb publication page

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A phase I dose-escalation study of enzalutamide in combination with the AKT inhibitor AZD5363 (capivasertib) in patients with metastatic castration-resistant prostate cancer.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Kolinsky, M P MP; Rescigno, P P; Bianchini, D D; Zafeiriou, Z Z; Mehra, N N; Mateo, J J; Michalarea, V V; Riisnaes, R R; Crespo, M M; Figueiredo, I I; Miranda, S S; Nava Rodrigues, D D; Flohr, P P; Tunariu, N N; Banerji, U U; Ruddle, R R; Sharp, A A; Welti, J J; Lambros, M M; Carreira, S S; Raynaud, F I FI; Swales, K E KE; Plymate, S S; Luo, J J; Tovey, H H; Porta, N N; Slade, R R; Leonard, L L; Hall, E E; de Bono, J S JS

Publication Date: 2020-05

Variant appearance in text: EZH2: D185H

PubMed Link: 32205016

Variant Present in the following documents:

• mmc9.xlsx, sheet 1

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: EZH2: 553G>C; D185H; rs2302427

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM6_ESM.xls, sheet 1
• 12920_2020_668_MOESM7_ESM.xls, sheet 1
• 12920_2020_668_MOESM8_ESM.xls, sheet 1
• 12920_2020_668_MOESM5_ESM.xls, sheet 1

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: EZH2: D185H

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: EZH2: 553G>C; Asp185His

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 9
• Supplementary_Data2.xlsx, sheet 10

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: EZH2: 553G>C; D185H; rs2302427

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: EZH2: 553G>C; Asp185His; rs2302427

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: EZH2: D185H; rs2302427

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: EZH2: D185H

PubMed Link: 31537801

Variant Present in the following documents:

• 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: EZH2: D185H; rs2302427

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Clinical and genetic analysis of melanomas arising in acral sites.

European Journal Of Cancer (Oxford, England : 1990)

Zaremba, Anne A; Murali, Rajmohan R; Jansen, Philipp P; Möller, Inga I; Sucker, Antje A; Paschen, Annette A; Zimmer, Lisa L; Livingstone, Elisabeth E; Brinker, Titus J TJ; Hadaschik, Eva E; Franklin, Cindy C; Roesch, Alexander A; Ugurel, Selma S; Schadendorf, Dirk D; Griewank, Klaus G KG; Cosgarea, Ioana I

Publication Date: 2019-09

Variant appearance in text: EZH2: D185H

PubMed Link: 31419753

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report.

Clinical Case Reports

Bosch-Vilaseca, Anna A; Monter-Rovira, Anna A; Cisa-Wieczorek, Sabina S; Oñate, Guadalupe G; Bussaglia, Elena E; Carricondo, Maite M; Remacha, Ángel Á; Martínez, Clara C; Pratcorona, Marta M; Blanco, María Laura ML; Nomdedéu, Josep F JF

Publication Date: 2019-07

Variant appearance in text: EZH2: D185H

PubMed Link: 31360496

Variant Present in the following documents:

• Main text
• CCR3-7-1395.pdf

View BVdb publication page

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Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports

Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R

Publication Date: 2019-06-04

Variant appearance in text: EZH2: D185H; rs2302427

PubMed Link: 31164688

Variant Present in the following documents:

• 41598_2019_44143_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Epigenetic Enzyme Mutations: Role in Tumorigenesis and Molecular Inhibitors.

Frontiers In Oncology

Han, Mei M; Jia, Lina L; Lv, Wencai W; Wang, Lihui L; Cui, Wei W

Publication Date: 2019

Variant appearance in text: EZH2: D185H

PubMed Link: 30984620

Variant Present in the following documents:

• Main text
• fonc-09-00194.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: EZH2: 553G>C; Asp185His

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs2302427

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

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: EZH2: 553G>C; Asp185His; rs2302427

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Theranostics

Vikova, Veronika V; Jourdan, Michel M; Robert, Nicolas N; Requirand, Guilhem G; Boireau, Stéphanie S; Bruyer, Angélique A; Vincent, Laure L; Cartron, Guillaume G; Klein, Bernard B; Elemento, Olivier O; Kassambara, Alboukadel A; Moreaux, Jérôme J

Publication Date: 2019

Variant appearance in text: EZH2: D185H

PubMed Link: 30809292

Variant Present in the following documents:

• thnov09p0540s1.pdf

View BVdb publication page

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Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One

Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M

Publication Date: 2019

Variant appearance in text: EZH2: 553G>C; Asp185His

PubMed Link: 30794603

Variant Present in the following documents:

• pone.0212370.s008.xlsx, sheet 1

View BVdb publication page

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Novel EZH2 mutation in a patient with secondary B-cell acute lymphocytic leukemia after deletion 5q myelodysplastic syndrome treated with lenalidomide: A case report.

Medicine

Burgos, Sebastian S; Montalban-Bravo, Guillermo G; Fuente, Lucia L; Jabbour, Elias J EJ; Kanagal-Shamanna, Rashmi R; Soltysiak, Kelly A KA; Garcia-Manero, Guillermo G; Mela-Osorio, Maria J MJ

Publication Date: 2019-01

Variant appearance in text: EZH2: 553G>C; D185H; rs2302427

PubMed Link: 30608448

Variant Present in the following documents:

• Main text

View BVdb publication page

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MiR-10a and HOXB4 are overexpressed in atypical myeloproliferative neoplasms.

Bmc Cancer

Dumas, Pierre-Yves PY; Mansier, Olivier O; Prouzet-Mauleon, Valerie V; Koya, Junji J; Villacreces, Arnaud A; Brunet de la Grange, Philippe P; Luque Paz, Damien D; Bidet, Audrey A; Pasquet, Jean-Max JM; Praloran, Vincent V; Salin, Franck F; Kurokawa, Mineo M; Mahon, François-Xavier FX; Cardinaud, Bruno B; Lippert, Eric E

Publication Date: 2018-11-12

Variant appearance in text: EZH2: 553G>C

PubMed Link: 30419846

Variant Present in the following documents:

View BVdb publication page

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Differences in clinical characteristics and mutational pattern between synchronous and metachronous colorectal liver metastases.

Cancer Management And Research

Zheng, Peng P; Ren, Li L; Feng, Qingyang Q; Zhu, Dexiang D; Chang, Wenju W; He, Guodong G; Ji, Meiling M; Jian, Mi M; Lin, Qi Q; Yi, Tuo T; Wei, Ye Y; Xu, Jianmin J

Publication Date: 2018

Variant appearance in text: rs2302427

PubMed Link: 30214282

Variant Present in the following documents:

• Main text
• cmar-10-2871.pdf

View BVdb publication page

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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: EZH2: 553G>C; Asp185His; rs2302427

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s1.xlsx, sheet 3
• bty518_supplementary_data_s5.xlsx, sheet 6

View BVdb publication page

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