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: 695C>T

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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Kras oncogene ablation prevents resistance in advanced lung adenocarcinoma.

The Journal Of Clinical Investigation

Salmón, Marina M; Álvarez-Díaz, Ruth R; Fustero-Torre, Coral C; Brehey, Oksana O; Lechuga, Carmen G CG; Sanclemente, Manuel M; Fernández-García, Fernando F; López-García, Alejandra A; Martín-Guijarro, María Carmen MC; Rodríguez-Perales, Sandra S; Bousquet-Mur, Emily E; Morales-Cacho, Lucía L; Mulero, Francisca F; Al-Shahrour, Fátima F; Martínez, Lola L; Domínguez, Orlando O; Caleiras, Eduardo E; Ortega, Sagrario S; Guerra, Carmen C; Musteanu, Monica M; Drosten, Matthias M; Barbacid, Mariano M

Publication Date: 2023-03-16

Variant appearance in text: TG: 695C>T

PubMed Link: 36928090

Variant Present in the following documents:

• jci-133-164413-s193.xlsx, sheet 1

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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: 695C>T

PubMed Link: 36271293

Variant Present in the following documents:

• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 3
• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity.

Plos Biology

Meek, Richard W RW; Brockerman, Jacob J; Fordwour, Osei B OB; Zandberg, Wesley F WF; Davies, Gideon J GJ; Vocadlo, David J DJ

Publication Date: 2022-09

Variant appearance in text: TG: 695C>T; S232L

PubMed Link: 36129849

Variant Present in the following documents:

• pbio.3001764.s007.pdf

View BVdb publication page

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Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.

Nature Communications

Georgeson, Peter P; Harrison, Tabitha A TA; Pope, Bernard J BJ; Zaidi, Syed H SH; Qu, Conghui C; Steinfelder, Robert S RS; Lin, Yi Y; Joo, Jihoon E JE; Mahmood, Khalid K; Clendenning, Mark M; Walker, Romy R; Amitay, Efrat L EL; Berndt, Sonja I SI; Brenner, Hermann H; Campbell, Peter T PT; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Doheny, Kimberly F KF; Drew, David A DA; Figueiredo, Jane C JC; French, Amy J AJ; Gallinger, Steven S; Giannakis, Marios M; Giles, Graham G GG; Gsur, Andrea A; Gunter, Marc J MJ; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Limburg, Paul P; Manson, JoAnn E JE; Moreno, Victor V; Nassir, Rami R; Nowak, Jonathan A JA; Obón-Santacana, Mireia M; Ogino, Shuji S; Phipps, Amanda I AI; Potter, John D JD; Schoen, Robert E RE; Sun, Wei W; Toland, Amanda E AE; Trinh, Quang M QM; Ugai, Tomotaka T; Macrae, Finlay A FA; Rosty, Christophe C; Hudson, Thomas J TJ; Jenkins, Mark A MA; Thibodeau, Stephen N SN; Winship, Ingrid M IM; Peters, Ulrike U; Buchanan, Daniel D DD

Publication Date: 2022-06-06

Variant appearance in text: TG: 695C>T

PubMed Link: 35668106

Variant Present in the following documents:

• 41467_2022_30916_MOESM3_ESM.xlsx, sheet 7

View BVdb publication page

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Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis.

Cancer Discovery

Schaettler, Maximilian O MO; Richters, Megan M MM; Wang, Anthony Z AZ; Skidmore, Zachary L ZL; Fisk, Bryan B; Miller, Katherine E KE; Vickery, Tammi L TL; Kim, Albert H AH; Chicoine, Michael R MR; Osbun, Joshua W JW; Leuthardt, Eric C EC; Dowling, Joshua L JL; Zipfel, Gregory J GJ; Dacey, Ralph G RG; Lu, Hsiang-Chih HC; Johanns, Tanner M TM; Griffith, Obi L OL; Mardis, Elaine R ER; Griffith, Malachi M; Dunn, Gavin P GP

Publication Date: 2022-01

Variant appearance in text: TG: 695C>T; Ser232Leu

PubMed Link: 34610950

Variant Present in the following documents:

• cd-21-0291_supplementary_table_4_suppst4.xlsx, sheet 16
• cd-21-0291_supplementary_table_4_suppst4.xlsx, sheet 14
• cd-21-0291_supplementary_table_4_suppst4.xlsx, sheet 15

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: TG: 695C>T

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: TG: S232F

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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: 695C>T; S232F

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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Comparative Genomics of Two Sequential Candida glabrata Clinical Isolates.

G3 (Bethesda, Md.)

Vale-Silva, Luis L; Beaudoing, Emmanuel E; Tran, Van Du T VDT; Sanglard, Dominique D

Publication Date: 2017-08-07

Variant appearance in text: TG: 695C>T

PubMed Link: 28663342

Variant Present in the following documents:

• 2413FileS2.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: 695C>T

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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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: TG: 695C>T

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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