Publications:

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A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: RNASEL: T595M

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

View BVdb publication page

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Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics

Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X

Publication Date: 2022

Variant appearance in text: RNASEL: 1784C>T; T595M; rs147890567

PubMed Link: 36386804

Variant Present in the following documents:

• Table1.xls, sheet 4
• Table1.xls, sheet 1
• Table1.xls, sheet 3

View BVdb publication page

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Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.

Frontiers In Oncology

Hu, Bin B; Ma, Xiumei X; Huang, Renhua R; Wu, Zheng Z; Lu, Jun J; Guo, Yuntao Y; Tang, Jianmin J; Ma, Chunhui C; Ma, Jun J; Zhang, Lei L; Bai, Yongrui Y

Publication Date: 2021

Variant appearance in text: RNASEL: 1784C>T; Thr595Met; rs147890567

PubMed Link: 34434896

Variant Present in the following documents:

• DataSheet_5.xlsx, sheet 1

View BVdb publication page

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: RNASEL: T595M

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

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: RNASEL: 1784C>T; T595M

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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Genomic characterization of intrinsic and acquired resistance to cetuximab in colorectal cancer patients.

Scientific Reports

Bray, Steven M SM; Lee, Jeeyun J; Kim, Seung Tae ST; Hur, Joon Young JY; Ebert, Philip J PJ; Calley, John N JN; Wulur, Isabella H IH; Gopalappa, Thejaswini T; Wong, Swee Seong SS; Qian, Hui-Rong HR; Ting, Jason C JC; Liu, Jiangang J; Willard, Melinda D MD; Novosiadly, Ruslan D RD; Park, Young Suk YS; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Aggarwal, Amit A; Kim, Hee Cheol HC; Reinhard, Christoph C

Publication Date: 2019-10-25

Variant appearance in text: RNASEL: T595M

PubMed Link: 31653970

Variant Present in the following documents:

• 41598_2019_51981_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: RNASEL: T595M

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 52

View BVdb publication page

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Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

Bmc Medical Genetics

Hettiaracchchi, Dineshani D; Bonnard, Carine C; Jayawardana, S M A SMA; Ng, Alvin Yu Jin AYJ; Tohari, Sumanty S; Venkatesh, Byrappa B; Reversade, Bruno B; Singaraja, Roshni R; Dissanayake, V H W VHW

Publication Date: 2018-07-24

Variant appearance in text: RNASEL: 1784C>T; Thr595Met; rs147890567

PubMed Link: 30041615

Variant Present in the following documents:

• 12881_2018_646_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: RNASEL: 1784C>T; T595M

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: RNASEL: T595M

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Functional and Structural Consequences of Damaging Single Nucleotide Polymorphisms in Human Prostate Cancer Predisposition Gene RNASEL.

Biomed Research International

Datta, Amit A; Mazumder, Md Habibul Hasan MH; Chowdhury, Afrin Sultana AS; Hasan, Md Anayet MA

Publication Date: 2015

Variant appearance in text: RNASEL: T595M; rs147890567

PubMed Link: 26236721

Variant Present in the following documents:

• Main text
• BMRI2015-271458.pdf

View BVdb publication page

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: RNASEL: T595M; rs147890567

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s009.xlsx, sheet 1

View BVdb publication page

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