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Mutation databases

In Silico Analysis of Single Nucleotide Polymorphism (SNPs) in Human β-Globin Gene

Mohammed Alanazi, Zainularifeen Abduljaleel, Wajahatullah Khan, Arjumand S. Warsy, Mohamed Elrobh, Zahid Khan, Abdullah Al Amri, Mohammad D. Bazzi

published 20 Oct 2011

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Bioinformatic Analysis of Pathogenic Missense Mutations of Activin Receptor Like Kinase 1 Ectodomain

Claudia Scotti, Carla Olivieri, Laura Boeri, Cecilia Canzonieri, Federica Ornati, Elisabetta Buscarini, Fabio Pagella, Cesare Danesino

published 18 Oct 2011

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Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India

Neeraj Kumar, Krishna Kant Taneja, Veena Kalra, Madhuri Behari, Satinder Aneja, Surendra Kumar Bansal

published 22 Sep 2011

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TGFBR2 and BAX Mononucleotide Tract Mutations, Microsatellite Instability, and Prognosis in 1072 Colorectal Cancers

Kaori Shima, Teppei Morikawa, Mai Yamauchi, Aya Kuchiba, Yu Imamura, Xiaoyun Liao, Jeffrey A. Meyerhardt, Charles S. Fuchs, Shuji Ogino

published 20 Sep 2011

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Angiomyolipoma Have Common Mutations in TSC2 but No Other Common Genetic Events

Wei Qin, Vineeta Bajaj, Izabela Malinowska, Xin Lu, Laura MacConaill, Chin-Lee Wu, David J. Kwiatkowski

published 16 Sep 2011

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Rational Design of Temperature-Sensitive Alleles Using Computational Structure Prediction

Christopher S. Poultney, Glenn L. Butterfoss, Michelle R. Gutwein, Kevin Drew, David Gresham, Kristin C. Gunsalus, Dennis E. Shasha, Richard Bonneau

published 02 Sep 2011

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HIV Drug Resistance (HIVDR) in Antiretroviral Therapy-Naïve Patients in Tanzania Not Eligible for WHO Threshold HIVDR Survey Is Dramatically High

Christa Kasang, Samuel Kalluvya, Charles Majinge, August Stich, Jochen Bodem, Gilbert Kongola, Graeme B. Jacobs, Mathias Mlewa, Miriam Mildner, Irina Hensel, Anne Horn, Wolfgang Preiser, Gert van Zyl, Hartwig Klinker, Eleni Koutsilieri, Axel Rethwilm, Carsten Scheller, Benedikt Weissbrich

published 19 Aug 2011

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Transmitted Drug Resistance in the CFAR Network of Integrated Clinical Systems Cohort: Prevalence and Effects on Pre-Therapy CD4 and Viral Load

Art F. Y. Poon, Jeannette L. Aldous, W. Christopher Mathews, Mari Kitahata, James S. Kahn, Michael S. Saag, Benigno Rodríguez, Stephen L. Boswell, Simon D. W. Frost, Richard H. Haubrich

published 20 Jun 2011

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Exome Sequencing Reveals Comprehensive Genomic Alterations across Eight Cancer Cell Lines

Han Chang, Donald G. Jackson, Paul S. Kayne, Petra B. Ross-Macdonald, Rolf-Peter Ryseck, Nathan O. Siemers

published 20 Jun 2011

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Surveillance of Transmitted Antiretroviral Drug Resistance among HIV-1 Infected Women Attending Antenatal Clinics in Chitungwiza, Zimbabwe

Mqondisi Tshabalala, Justen Manasa, Lynn S. Zijenah, Simbarashe Rusakaniko, Gerard Kadzirange, Mary Mucheche, Seble Kassaye, Elizabeth Johnston, David Katzenstein

published 16 Jun 2011

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Added Value of Deep Sequencing Relative to Population Sequencing in Heavily Pre-Treated HIV-1-Infected Subjects

Francisco M. Codoñer, Christian Pou, Alexander Thielen, Federico García, Rafael Delgado, David Dalmau, Miguel Álvarez-Tejado, Lidia Ruiz, Bonaventura Clotet, Roger Paredes

published 13 May 2011

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A Systematic Study of Gene Mutations in Urothelial Carcinoma; Inactivating Mutations in TSC2 and PIK3R1

Gottfrid Sjödahl, Martin Lauss, Sigurdur Gudjonsson, Fredrik Liedberg, Christer Halldén, Gunilla Chebil, Wiking Månsson, Mattias Höglund, David Lindgren

published 14 Apr 2011

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Predicting Phenotypic Severity of Uncertain Gene Variants in the RET Proto-Oncogene

David K. Crockett, Stephen R. Piccolo, Perry G. Ridge, Rebecca L. Margraf, Elaine Lyon, Marc S. Williams, Joyce A. Mitchell

published 30 Mar 2011

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