Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: TNFRSF1B: K56K; rs945439

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: TNFRSF1B: K56K; rs945439

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic associations with immune-mediated outcomes after allogeneic hematopoietic cell transplantation.

Blood Advances

Martin, Paul J PJ; Levine, David M DM; Storer, Barry E BE; Sather, Cassandra L CL; Spellman, Stephen R SR; Hansen, John A JA

Publication Date: 2022-04-26

Variant appearance in text: rs945439

PubMed Link: 34996099

Variant Present in the following documents:

• advancesADV2021005620-suppl1.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: TNFRSF1B: 168A>G; K56K; rs945439

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: TNFRSF1B: K56K; rs945439

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs945439

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: TNFRSF1B: 168A>G; K56K; rs945439

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_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: TNFRSF1B: K56K; rs945439

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM10_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: TNFRSF1B: 168A>G

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic polymorphism related to monocyte-macrophage function is associated with graft-versus-host disease.

Scientific Reports

Hyvärinen, Kati K; Ritari, Jarmo J; Koskela, Satu S; Niittyvuopio, Riitta R; Nihtinen, Anne A; Volin, Liisa L; Gallardo, David D; Partanen, Jukka J

Publication Date: 2017-11-15

Variant appearance in text: rs945439

PubMed Link: 29142307

Variant Present in the following documents:

• 41598_2017_15915_MOESM1_ESM.pdf

View BVdb publication page

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Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Cell Reports

Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V

Publication Date: 2015-10-13

Variant appearance in text: rs945439

PubMed Link: 26440892

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: TNFRSF1B: K56K; rs945439

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Association between genetic variations in tumor necrosis factor receptor genes and survival of patients with T-cell lymphoma.

Chinese Journal Of Cancer

Zhai, Kan K; Chang, Jiang J; Wu, Chen C; Lu, Ning N; Huang, Li-Ming LM; Zhang, Tong-Wen TW; Yu, Dian-Ke DK; Tan, Wen W; Lin, Dong-Xin DX

Publication Date: 2012-07

Variant appearance in text: rs945439

PubMed Link: 22640629

Variant Present in the following documents:

• Main text

View BVdb publication page

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No association of TNFRSF1B variants with type 2 diabetes in Indians of Indo-European origin.

Bmc Medical Genetics

Tabassum, Rubina R; Mahajan, Anubha A; Chauhan, Ganesh G; Dwivedi, Om Prakash OP; Dubey, Himanshu H; Sharma, Vasudha V; Kundu, Bratashree B; Ghosh, Saurabh S; Tandon, Nikhil N; Bharadwaj, Dwaipayan D

Publication Date: 2011-08-17

Variant appearance in text: TNFRSF1B: K56K; rs945439

PubMed Link: 21849023

Variant Present in the following documents:

• Main text
• 1471-2350-12-110.pdf

View BVdb publication page

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Polymorphisms of the tumor necrosis factor-alpha receptor 2 gene are associated with obesity phenotypes among 405 Caucasian nuclear families.

Human Genetics

Zhao, Lan-Juan LJ; Xiong, Dong-Hai DH; Pan, Feng F; Liu, Xiao-Gang XG; Recker, Robert R RR; Deng, Hong-Wen HW

Publication Date: 2008-09

Variant appearance in text: rs945439

PubMed Link: 18685868

Variant Present in the following documents:

• Main text

View BVdb publication page

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