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Mutation databases

Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas

Feng Zhang, Jinlong Liang, [ ... ], Jun Wang

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

Ying Hu, I-Ping Chen, [ ... ], Ernst J. Reichenberger

Mutationmapper: A Tool to Aid the Mapping of Protein Mutation Data

Shabana Vohra, Philip C. Biggin

Common and Rare EGFR and KRAS Mutations in a Dutch Non-Small-Cell Lung Cancer Population and Their Clinical Outcome

Gerald S. M. A. Kerner, Ed Schuuring, [ ... ], the CTMM Air Force Consortium

Prediction of Disease Causing Non-Synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP

Morten Bo Johansen, Jose M. G. Izarzugaza, [ ... ], Ramneek Gupta

Whole Genome SNP Genotyping and Exome Sequencing Reveal Novel Genetic Variants and Putative Causative Genes in Congenital Hyperinsulinism

Maria Carla Proverbio, Eleonora Mangano, [ ... ], Cristina Battaglia

Structural Analysis of Mitochondrial Mutations Reveals a Role for Bigenomic Protein Interactions in Human Disease

Rhiannon E. Lloyd, John E. McGeehan

The Role of Balanced Training and Testing Data Sets for Binary Classifiers in Bioinformatics

Qiong Wei, Roland L. Dunbrack Jr

Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy

Yilu Wang, Zhimin Wang, [ ... ], Lei Song

Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

Marta Corton, Koji M. Nishiguchi, [ ... ], Carlo Rivolta

Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Charalampos Tzoulis, Stefan Johansson, [ ... ], Laurence A. Bindoff

Fitness Costs of Mutations at the HIV-1 Capsid Hexamerization Interface

Siriphan Manocheewa, J. Victor Swain, [ ... ], James I. Mullins

Structural Modeling and In Silico Analysis of Human Superoxide Dismutase 2

Mariana Dias Castela de Carvalho, Joelma Freire De Mesquita

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