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Mutation databases

Zidovudine (AZT) Monotherapy Selects for the A360V Mutation in the Connection Domain of HIV-1 Reverse Transcriptase

Jessica H. Brehm, Yanille Scott, Dianna L. Koontz, Steven Perry, Scott Hammer, David Katzenstein, John W. Mellors, Nicolas Sluis-Cremer, for the AIDS Clinical Trials Group Study 175 Protocol Team

published 21 Feb 2012

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MiRNA Genes Constitute New Targets for Microsatellite Instability in Colorectal Cancer

Nizar El-Murr, Zoulira Abidi, Kristell Wanherdrick, Magali Svrcek, Marie-Pierre Gaub, Jean-François Fléjou, Richard Hamelin, Alex Duval, Thécla Lesuffleur

published 14 Feb 2012

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Benzo[a]pyrene, Aflatoxine B₁ and Acetaldehyde Mutational Patterns in TP53 Gene Using a Functional Assay: Relevance to Human Cancer Aetiology

Vincent Paget, Mathilde Lechevrel, Véronique André, Jérémie Le Goff, Didier Pottier, Sylvain Billet, Guillaume Garçon, Pirouz Shirali, François Sichel

published 03 Feb 2012

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Extremely High Tp53 Mutation Load in Esophageal Squamous Cell Carcinoma in Golestan Province, Iran

Behnoush Abedi-Ardekani, Farin Kamangar, Masoud Sotoudeh, Stephanie Villar, Farhad Islami, Karim Aghcheli, Dariush Nasrollahzadeh, Noushin Taghavi, Sanford M. Dawsey, Christian C. Abnet, Stephen M. Hewitt, Saman Fahimi, Farrokh Saidi, Paul Brennan, Paolo Boffetta, Reza Malekzadeh, Pierre Hainaut

published 27 Dec 2011

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Identification of Sequence Variants in Genetic Disease-Causing Genes Using Targeted Next-Generation Sequencing

Xiaoming Wei, Xiangchun Ju, Xin Yi, Qian Zhu, Ning Qu, Tengfei Liu, Yang Chen, Hui Jiang, Guanghui Yang, Ruan Zhen, Zhangzhang Lan, Ming Qi, Jinming Wang, Yi Yang, Yuxing Chu, Xiaoyan Li, Yanfang Guang, Jian Huang

published 21 Dec 2011

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The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

Kon-Ping Lin, Bing-Wen Soong, Chih-Chao Yang, Li-Wen Huang, Ming-Hong Chang, I-Hui Lee, Antony Antonellis, Yi-Chung Lee

published 19 Dec 2011

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Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects

Maximilian G. Posch, Stephan Waldmuller, Melanie Müller, Thomas Scheffold, David Fournier, Miguel A. Andrade-Navarro, Bernard De Geeter, Sophie Guillaumont, Claire Dauphin, Dany Yousseff, Katharina R. Schmitt, Andreas Perrot, Felix Berger, Roland Hetzer, Patrice Bouvagnet, Cemil Özcelik

published 14 Dec 2011

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ProKinO: An Ontology for Integrative Analysis of Protein Kinases in Cancer

Gurinder Gosal, Krys J. Kochut, Natarajan Kannan

published 14 Dec 2011

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Can Linear Regression Modeling Help Clinicians in the Interpretation of Genotypic Resistance Data? An Application to Derive a Lopinavir-Score

Alessandro Cozzi-Lepri, Mattia C. F. Prosperi, Jesper Kjær, David Dunn, Roger Paredes, Caroline A. Sabin, Jens D. Lundgren, Andrew N. Phillips, Deenan Pillay, for the EuroSIDA and the United Kingdom CHIC/United Kingdom HDRD Studies

published 16 Nov 2011

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Rapid Colorimetric Testing for Pyrazinamide Susceptibility of M. tuberculosis by a PCR-Based In-Vitro Synthesized Pyrazinamidase Method

Man Zhou, Xuelei Geng, Jun Chen, Xude Wang, Dianbing Wang, Jiaoyu Deng, Zhiping Zhang, Weihua Wang, Xian-En Zhang, Hongping Wei

published 10 Nov 2011

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Ethanol and Reactive Species Increase Basal Sequence Heterogeneity of Hepatitis C Virus and Produce Variants with Reduced Susceptibility to Antivirals

Scott Seronello, Jessica Montanez, Kristen Presleigh, Miriam Barlow, Seung Bum Park, Jinah Choi

published 08 Nov 2011

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Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis

Bruno A. Benitez, David Alvarado, Yefei Cai, Kevin Mayo, Sumitra Chakraverty, Joanne Norton, John C. Morris, Mark S. Sands, Alison Goate, Carlos Cruchaga

published 04 Nov 2011

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Segtor: Rapid Annotation of Genomic Coordinates and Single Nucleotide Variations Using Segment Trees

Gabriel Renaud, Pedro Neves, Edson Luiz Folador, Carlos Gil Ferreira, Fabio Passetti

published 01 Nov 2011

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