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Mutation databases

Comprehensive Mutation Analysis in Colorectal Flat Adenomas

Quirinus J. M. Voorham, Beatriz Carvalho, Angela J. Spiertz, Bart Claes, Sandra Mongera, Nicole C. T. van Grieken, Heike Grabsch, Martin Kliment, Bjorn Rembacken, Mark A. van de Wiel, Philip Quirke, Chris J. J. Mulder, Diether Lambrechts, Manon van Engeland, Gerrit A. Meijer

published 27 Jul 2012

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Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population

Koji M. Nishiguchi, Carlo Rivolta

published 27 Jul 2012

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Mapping the Mutual Information Network of Enzymatic Families in the Protein Structure to Unveil Functional Features

Daniel Aguilar, Baldo Oliva, Cristina Marino Buslje

published 25 Jul 2012

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Image Correlation Method for DNA Sequence Alignment

Millaray Curilem Saldías, Felipe Villarroel Sassarini, Carlos Muñoz Poblete, Asticio Vargas Vásquez, Iván Maureira Butler

published 27 Jun 2012

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Identification of Novel Mutations in HEXA Gene in Children Affected with Tay Sachs Disease from India

Mehul Mistri, Parag M. Tamhankar, Frenny Sheth, Daksha Sanghavi, Pratima Kondurkar, Swapnil Patil, Susan Idicula-Thomas, Sarita Gupta, Jayesh Sheth

published 18 Jun 2012

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Leukemia Gene Atlas – A Public Platform for Integrative Exploration of Genome-Wide Molecular Data

Katja Hebestreit, Sören Gröttrup, Daniel Emden, Jannis Veerkamp, Christian Ruckert, Hans-Ulrich Klein, Carsten Müller-Tidow, Martin Dugas

published 14 Jun 2012

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New Mutations in Chronic Lymphocytic Leukemia Identified by Target Enrichment and Deep Sequencing

Elena Doménech, Gonzalo Gómez-López, Daniel Gzlez-Peña, Mar López, Beatriz Herreros, Juliane Menezes, Natalia Gómez-Lozano, Angel Carro, Osvaldo Graña, David G. Pisano, Orlando Domínguez, José A. García-Marco, Miguel A. Piris, Margarita Sánchez-Beato

published 01 Jun 2012

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KRASness and PIK3CAness in Patients with Advanced Colorectal Cancer: Outcome after Treatment with Early-Phase Trials with Targeted Pathway Inhibitors

Ignacio Garrido-Laguna, David S. Hong, Filip Janku, Ly M. Nguyen, Gerald S. Falchook, Siqing Fu, Jenifer J. Wheler, Rajyalakshmi Luthra, Aung Naing, Xuemei Wang, Razelle Kurzrock

published 31 May 2012

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Functional Analysis of Alleged NOGGIN Mutation G92E Disproves Its Pathogenic Relevance

Julia Zimmer, Sandra C. Doelken, Denise Horn, Jay C. Groppe, Eileen M. Shore, Frederick S. Kaplan, Petra Seemann

published 18 Apr 2012

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Identification and Characterization of Novel Mutations in the Human Gene Encoding the Catalytic Subunit Calpha of Protein Kinase A (PKA)

Kristoffer Søberg, Anja C. V. Larsen, Mandy Diskar, Paul H. Backe, Magnar Bjørås, Tore Jahnsen, Jon K. Laerdahl, Torbjørn Rognes, Friedrich W. Herberg, Bjørn S. Skålhegg

published 13 Apr 2012

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The Naturally Occurring YMDD Mutation among Patients Chronically Infected HBV and Untreated with Lamivudine: A Systematic Review and Meta-Analysis

Youwen Tan, Keqin Ding, Jing Su, Xuan Trinh, Zhihang Peng, Yuhua Gong, Li Chen, Qian Cui, Na Lei, Xin Chen, Rongbin Yu

published 27 Mar 2012

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Structural Stability of Human Protein Tyrosine Phosphatase ρ Catalytic Domain: Effect of Point Mutations

Alessandra Pasquo, Valerio Consalvi, Stefan Knapp, Ivan Alfano, Matteo Ardini, Simonetta Stefanini, Roberta Chiaraluce

published 28 Feb 2012

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Sequencing Analysis of SLX4/FANCP Gene in Italian Familial Breast Cancer Cases

Irene Catucci, Mara Colombo, Paolo Verderio, Loris Bernard, Filomena Ficarazzi, Frederique Mariette, Monica Barile, Bernard Peissel, Elisa Cattaneo, Siranoush Manoukian, Paolo Radice, Paolo Peterlongo

published 23 Feb 2012

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