Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: TG: 158C>T; A53V

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: TG: 158C>T; A53V

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM4_ESM.xls, sheet 2

View BVdb publication page

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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: TG: 158C>T

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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Proteogenomic characterization of MiT family translocation renal cell carcinoma.

Nature Communications

Qu, Yuanyuan Y; Wu, Xiaohui X; Anwaier, Aihetaimujiang A; Feng, Jinwen J; Xu, Wenhao W; Pei, Xiaoru X; Zhu, Yu Y; Liu, Yang Y; Bai, Lin L; Yang, Guojian G; Tian, Xi X; Su, Jiaqi J; Shi, Guo-Hai GH; Cao, Da-Long DL; Xu, Fujiang F; Wang, Yue Y; Gan, Hua-Lei HL; Ni, Shujuan S; Sun, Meng-Hong MH; Zhao, Jian-Yuan JY; Zhang, Hailiang H; Ye, Dingwei D; Ding, Chen C

Publication Date: 2022-12-05

Variant appearance in text: TG: Ala53Val

PubMed Link: 36470859

Variant Present in the following documents:

• 41467_2022_34460_MOESM5_ESM.xlsx, sheet 2

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: TG: 158C>T

PubMed Link: 36386804

Variant Present in the following documents:

• Table1.xls, sheet 3

View BVdb publication page

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Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology

Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC

Publication Date: 2022-10-21

Variant appearance in text: TG: 158C>T; Ala53Val

PubMed Link: 36271293

Variant Present in the following documents:

• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 6
• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 8
• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: TG: A53V

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: TG: A53V

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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HDAC2 Facilitates Pancreatic Cancer Metastasis.

Cancer Research

Krauß, Lukas L; Urban, Bettina C BC; Hastreiter, Sieglinde S; Schneider, Carolin C; Wenzel, Patrick P; Hassan, Zonera Z; Wirth, Matthias M; Lankes, Katharina K; Terrasi, Andrea A; Klement, Christine C; Cernilogar, Filippo M FM; Öllinger, Rupert R; de Andrade Krätzig, Niklas N; Engleitner, Thomas T; Schmid, Roland M RM; Steiger, Katja K; Rad, Roland R; Krämer, Oliver H OH; Reichert, Maximilian M; Schotta, Gunnar G; Saur, Dieter D; Schneider, Günter G

Publication Date: 2022-02-15

Variant appearance in text: TG: 158C>T; Ala53Val

PubMed Link: 34903606

Variant Present in the following documents:

• can-20-3209_supplementary_table_3_suppst3.xlsx, sheet 2

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: TG: 158C>T

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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A case of heterozygous familial hypercholesterolemia requiring strict low-density lipoprotein cholesterol management with proprotein convertase subtilisin/kexin 9 inhibitor after coronary artery bypass grafting.

Journal Of Cardiology Cases

Abe, Takuro T; Sato, Kayoko K; Sekiguchi, Haruki H; Nakao, Masashi M; Im, Jihaeng J; Sakai, Akiko A; Yamamoto, Toshiyuki T; Shoda, Morio M; Hagiwara, Nobuhisa N

Publication Date: 2021-09

Variant appearance in text: TG: A53V

PubMed Link: 34466176

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications

Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G

Publication Date: 2021-08-31

Variant appearance in text: TG: 158C>T; A53V

PubMed Link: 34465776

Variant Present in the following documents:

• 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: TG: 158C>T

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

View BVdb publication page

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Monoclonal Antibodies Specific to the Extracellular Domain of Histidine Kinase YycG of Staphylococcus epidermidis Inhibit Biofilm Formation.

Frontiers In Microbiology

Lyu, Zhihui Z; Shang, Yongpeng Y; Wang, Xiaofei X; Wu, Yang Y; Zheng, Jinxin J; Liu, Huayong H; Gong, Ting T; Ye, Lina L; Qu, Di D

Publication Date: 2020

Variant appearance in text: TG: A53V

PubMed Link: 32849437

Variant Present in the following documents:

• Main text

View BVdb publication page

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: TG: A53V

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_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: TG: Ala53Val

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 11
• Supplementary_Data2.xlsx, sheet 12
• Supplementary_Data2.xlsx, sheet 1
• Supplementary_Data2.xlsx, sheet 9
• Supplementary_Data2.xlsx, sheet 2
• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 4

View BVdb publication page

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Neuronal differentiation and cell-cycle programs mediate response to BET-bromodomain inhibition in MYC-driven medulloblastoma.

Nature Communications

Bandopadhayay, Pratiti P; Piccioni, Federica F; O'Rourke, Ryan R; Ho, Patricia P; Gonzalez, Elizabeth M EM; Buchan, Graham G; Qian, Kenin K; Gionet, Gabrielle G; Girard, Emily E; Coxon, Margo M; Rees, Matthew G MG; Brenan, Lisa L; Dubois, Frank F; Shapira, Ofer O; Greenwald, Noah F NF; Pages, Melanie M; Balboni Iniguez, Amanda A; Paolella, Brenton R BR; Meng, Alice A; Sinai, Claire C; Roti, Giovanni G; Dharia, Neekesh V NV; Creech, Amanda A; Tanenbaum, Benjamin B; Khadka, Prasidda P; Tracy, Adam A; Tiv, Hong L HL; Hong, Andrew L AL; Coy, Shannon S; Rashid, Rumana R; Lin, Jia-Ren JR; Cowley, Glenn S GS; Lam, Fred C FC; Goodale, Amy A; Lee, Yenarae Y; Schoolcraft, Kathleen K; Vazquez, Francisca F; Hahn, William C WC; Tsherniak, Aviad A; Bradner, James E JE; Yaffe, Michael B MB; Milde, Till T; Pfister, Stefan M SM; Qi, Jun J; Schenone, Monica M; Carr, Steven A SA; Ligon, Keith L KL; Kieran, Mark W MW; Santagata, Sandro S; Olson, James M JM; Gokhale, Prafulla C PC; Jaffe, Jacob D JD; Root, David E DE; Stegmaier, Kimberly K; Johannessen, Cory M CM; Beroukhim, Rameen R

Publication Date: 2019-06-03

Variant appearance in text: TG: 158C>T; A53V

PubMed Link: 31160565

Variant Present in the following documents:

• 41467_2019_10307_MOESM8_ESM.xlsx, sheet 11

View BVdb publication page

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Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia.

Internal Medicine (Tokyo, Japan)

Tanaka, Sho S; Ueno, Takahiro T; Tsunemi, Akiko A; Nakamura, Yoshihiro Y; Kobayashi, Hiroki H; Hatanaka, Yoshinari Y; Haketa, Akira A; Fukuda, Noboru N; Soma, Masayoshi M; Abe, Masanori M

Publication Date: 2019-01-15

Variant appearance in text: TG: Ala53Val

PubMed Link: 30210108

Variant Present in the following documents:

• Main text
• 1349-7235-58-0251.pdf

View BVdb publication page

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Human gastric cancer modelling using organoids.

Gut

Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE

Publication Date: 2019-02

Variant appearance in text: TG: Ala53Val

PubMed Link: 29703791

Variant Present in the following documents:

• gutjnl-2017-314549supp010.xlsx, sheet 4
• gutjnl-2017-314549supp010.xlsx, sheet 3

View BVdb publication page

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Sequence Analysis of APOA5 Among the Kuwaiti Population Identifies Association of rs2072560, rs2266788, and rs662799 With TG and VLDL Levels.

Frontiers In Genetics

Jasim, Anfal A AA; Al-Bustan, Suzanne A SA; Al-Kandari, Wafa W; Al-Serri, Ahmad A; AlAskar, Huda H

Publication Date: 2018

Variant appearance in text: TG: 158C>T

PubMed Link: 29686695

Variant Present in the following documents:

• fgene-09-00112.pdf

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: TG: 158C>T; A53V

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1
• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page

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Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)

Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB

Publication Date: 2017-07-05

Variant appearance in text: TG: Ala53Val

PubMed Link: 28592556

Variant Present in the following documents:

• 2345FileS1.xlsx, sheet 1

View BVdb publication page

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Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics

Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M

Publication Date: 2017-02-23

Variant appearance in text: TG: 158C>T; Ala53Val

PubMed Link: 28231761

Variant Present in the following documents:

• 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications

Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M

Publication Date: 2017-02-14

Variant appearance in text: TG: 158C>T

PubMed Link: 28195122

Variant Present in the following documents:

• ncomms14433-s3.xlsx, sheet 3

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: TG: 158C>T; A53V

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Influences of APOA5 variants on plasma triglyceride levels in Uyghur population.

Plos One

Li, Shuyuan S; Hu, Bin B; Wang, Yi Y; Wu, Di D; Jin, Li L; Wang, Xiaofeng X

Publication Date: 2014

Variant appearance in text: TG: 158C>T

PubMed Link: 25313938

Variant Present in the following documents:

• Main text

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: TG: A53V

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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