Publications:

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Whole-exome sequencing and bioinformatic analyses revealed differences in gene mutation profiles in papillary thyroid cancer patients with and without benign thyroid goitre background.

Frontiers In Endocrinology

Eng, Zing Hong ZH; Abdullah, Mardiaty Iryani MI; Ng, Khoon Leong KL; Abdul Aziz, Azlina A; Arba'ie, Nurul Hannis NH; Mat Rashid, Nurullainy N; Mat Junit, Sarni S

Publication Date: 2022

Variant appearance in text: JAK2: 380G>A; Gly127Asp; rs56118985

PubMed Link: 36686473

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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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: JAK2: G127D

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Jiachen J; Shen, Kefeng K; Mu, Wei W; Li, Weigang W; Zhang, Meilan M; Zhang, Wei W; Li, Zhe Z; Ge, Tong T; Zhu, Zhoujie Z; Zhang, Shangkun S; Chen, Caixia C; Xing, Shugang S; Zhu, Li L; Chen, Liting L; Wang, Na N; Huang, Liang L; Li, Dengju D; Xiao, Min M; Zhou, Jianfeng J

Publication Date: 2022

Variant appearance in text: JAK2: 380G>A; Gly127Asp

PubMed Link: 35572515

Variant Present in the following documents:

• Table_2.xlsx, sheet 6

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: JAK2: G127D

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integration Analysis of JAK2 or RUNX1 Mutation With Bone Marrow Blast Can Improve Risk Stratification in the Patients With Lower Risk Myelodysplastic Syndrome.

Frontiers In Oncology

Fang, Ying Y; Guo, Juan J; Wu, Dong D; Wu, Ling-Yun LY; Song, Lu-Xi LX; Zhang, Zheng Z; Zhao, You-Shan YS; Chang, Chun-Kang CK

Publication Date: 2020

Variant appearance in text: JAK2: G127D

PubMed Link: 33520721

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Clinical Features and Genomic Characterization of Post-Colonoscopy Colorectal Cancer.

Clinical And Translational Gastroenterology

Tanaka, Hidenori H; Urabe, Yuji Y; Oka, Shiro S; Shimohara, Yasutsugu Y; Nishimura, Tomoyuki T; Inagaki, Katsuaki K; Okamoto, Yuki Y; Matsumoto, Kenta K; Yamashita, Ken K; Sumimoto, Kyoku K; Ninomiya, Yuki Y; Yuge, Ryo R; Tanaka, Shinji S; Chayama, Kazuaki K

Publication Date: 2020-10

Variant appearance in text: JAK2: G127D

PubMed Link: 33031197

Variant Present in the following documents:

• ct9-11-e00246-s003.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: JAK2: 380G>A; Gly127Asp

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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BCOR mutation and TLS-ERG expression in acute myeloid leukemia with monoclonal immunoglobulinemia.

Oncotargets And Therapy

Jin, Jingxia J; Luo, Shuna S; Ye, XingNong X; Huang, Jian J

Publication Date: 2019

Variant appearance in text: JAK2: 380G>A; G127D

PubMed Link: 31564896

Variant Present in the following documents:

• Main text
• ott-12-7123.pdf

View BVdb publication page

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Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine

Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM

Publication Date: 2019-05-28

Variant appearance in text: JAK2: 380G>A; G127D

PubMed Link: 31133068

Variant Present in the following documents:

• 13073_2019_644_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing.

Oncotargets And Therapy

Yang, Fan F; Xu, Song S; Liu, Renwang R; Shi, Tao T; Li, Xiongfei X; Li, Xuebing X; Chen, Gang G; Liu, Hongyu H; Zhou, Qinghua Q; Chen, Jun J

Publication Date: 2018

Variant appearance in text: JAK2: G127D

PubMed Link: 29503567

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs56118985

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: JAK2: G127D; rs56118985

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.

Genetics And Molecular Biology

Liu, Yunqiang Y; Lu, Yongjie Y; Liu, Shasha S; Liao, Shunyao S

Publication Date: 2017

Variant appearance in text: JAK2: 380G>A

PubMed Link: 28590501

Variant Present in the following documents:

• 1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs56118985

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: JAK2: G127D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Distinct molecular abnormalities underlie unique clinical features of essential thrombocythemia in children.

Leukemia

Fu, R R; Liu, D D; Cao, Z Z; Zhu, S S; Li, H H; Su, H H; Zhang, L L; Xue, F F; Liu, X X; Zhang, X X; Cheng, T T; Yang, R R; Zhang, L L

Publication Date: 2016-03

Variant appearance in text: JAK2: G127D; rs56118985

PubMed Link: 26118316

Variant Present in the following documents:

• Main text
• leu2015167x1.pdf
• leu2015167a.pdf

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: JAK2: G127D; rs56118985

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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