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: GC: 41G>T

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

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Characterization of Pyroptosis-Related Subtypes via RNA-Seq and ScRNA-Seq to Predict Chemo-Immunotherapy Response in Triple-Negative Breast Cancer.

Frontiers In Genetics

Li, Chenlu C; Pan, Jingjing J; Jiang, Yinyan Y; Wu, Yanzhi Y; Jin, Zhenlin Z; Chen, Xupeng X

Publication Date: 2022

Variant appearance in text: GC: 41G>T

PubMed Link: 35386285

Variant Present in the following documents:

• DataSheet3.xlsx, sheet 4

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The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

Bmc Genomic Data

Zhao, Ting T; Fan, Shanghua S; Sun, Liu L

Publication Date: 2021-11-17

Variant appearance in text: GC: 41G>T

PubMed Link: 34789164

Variant Present in the following documents:

• 12863_2021_1010_MOESM9_ESM.xlsx, sheet 1

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: GC: 41G>T; Gly14Val

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

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Multiomics analysis reveals a distinct response mechanism in multiple primary lung adenocarcinoma after neoadjuvant immunotherapy.

Journal For Immunotherapy Of Cancer

Zhang, Chao C; Yin, Kai K; Liu, Si-Yang SY; Yan, Li-Xu LX; Su, Jian J; Wu, Yi-Long YL; Zhang, Xu-Chao XC; Zhong, Wen-Zhao WZ; Yang, Xue-Ning XN

Publication Date: 2021-04

Variant appearance in text: GC: 41G>T

PubMed Link: 33820821

Variant Present in the following documents:

• jitc-2020-002312supp002.xlsx, sheet 1

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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: GC: 41G>T

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.

Journal Of Atherosclerosis And Thrombosis

Matsunaga, Akira A; Nagashima, Mariko M; Yamagishi, Hideko H; Saku, Keijiro K

Publication Date: 2020-12-01

Variant appearance in text: GC: 41G>T

PubMed Link: 32115487

Variant Present in the following documents:

• Main text

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Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study.

Plos One

Olivier, Magali M; Bouaoun, Liacine L; Villar, Stephanie S; Robitaille, Alexis A; Cahais, Vincent V; Heguy, Adriana A; Byrnes, Graham G; Le Calvez-Kelm, Florence F; Torres-Mejía, Gabriela G; Alvarado-Cabrero, Isabel I; Imani-Razavi, Fazlollah Shahram FS; Inés Sánchez, Gloria G; Jaramillo, Roberto R; Porras, Carolina C; Rodriguez, Ana Cecilia AC; Garmendia, Maria Luisa ML; Soto, José Luis JL; Romieu, Isabelle I; Porter, Peggy P; Guenthoer, Jamie J; Rinaldi, Sabina S; ,

Publication Date: 2019

Variant appearance in text: GC: G14V

PubMed Link: 30653559

Variant Present in the following documents:

• pone.0210372.s001.xlsx, sheet 3

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A comprehensive map of single-base polymorphisms in the hypervariable LPA kringle IV type 2 copy number variation region.

Journal Of Lipid Research

Coassin, Stefan S; Schönherr, Sebastian S; Weissensteiner, Hansi H; Erhart, Gertraud G; Forer, Lukas L; Losso, Jamie Lee JL; Lamina, Claudia C; Haun, Margot M; Utermann, Gerd G; Paulweber, Bernhard B; Specht, Günther G; Kronenberg, Florian F

Publication Date: 2019-01

Variant appearance in text: GC: Gly14Val

PubMed Link: 30413653

Variant Present in the following documents:

• 10.1194_M090381_jlr.M090381-1.pdf

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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: GC: 41G>T; G14V

PubMed Link: 29245897

Variant Present in the following documents:

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

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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: GC: 41G>T

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: GC: G14V

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

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Regulation of RhoA signaling by the cAMP-dependent phosphorylation of RhoGDIα.

The Journal Of Biological Chemistry

Oishi, Atsuro A; Makita, Noriko N; Sato, Junichiro J; Iiri, Taroh T

Publication Date: 2012-11-09

Variant appearance in text: GC: G14V

PubMed Link: 23012358

Variant Present in the following documents:

• Main text

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Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.

Human Molecular Genetics

Herdewyn, Sarah S; Zhao, Hui H; Moisse, Matthieu M; Race, Valérie V; Matthijs, Gert G; Reumers, Joke J; Kusters, Benno B; Schelhaas, Helenius J HJ; van den Berg, Leonard H LH; Goris, An A; Robberecht, Wim W; Lambrechts, Diether D; Van Damme, Philip P

Publication Date: 2012-06-01

Variant appearance in text: GC: G14V

PubMed Link: 22343411

Variant Present in the following documents:

• Main text

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