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Mutation databases

Structural Modeling and In Silico Analysis of Human Superoxide Dismutase 2

Mariana Dias Castela de Carvalho, Joelma Freire De Mesquita

Credibility Analysis of Putative Disease-Causing Genes Using Bioinformatics

Olubunmi Abel, John F. Powell, Peter M. Andersen, Ammar Al-Chalabi

Effect of Single Amino Acid Substitution Observed in Cancer on Pim-1 Kinase Thermodynamic Stability and Structure

Clorinda Lori, Antonella Lantella, [ ... ], Valerio Consalvi

The Role of Recombination in the Origin and Evolution of Alu Subfamilies

Ana Teixeira-Silva, Raquel M. Silva, [ ... ], Luísa Azevedo

Comprehensive Genomic Characterization of Cutaneous Malignant Melanoma Cell Lines Derived from Metastatic Lesions by Whole-Exome Sequencing and SNP Array Profiling

Ingrid Cifola, Alessandro Pietrelli, [ ... ], Cristina Battaglia

Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

Xue Gao, Yu Su, [ ... ], Pu Dai

Equivalent Indels – Ambiguous Functional Classes and Redundancy in Databases

Jens Assmus, Jürgen Kleffe, Armin O. Schmitt, Gudrun A. Brockmann

Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome

Nicolas Kalfa, Pascal Philibert, [ ... ], Charles Sultan

Identification of Functional Mutations in GATA4 in Patients with Congenital Heart Disease

Erli Wang, Shuna Sun, [ ... ], Hongyan Wang

A Patient with Posterior Cortical Atrophy Possesses a Novel Mutation in the Presenilin 1 Gene

Emilia J. Sitek, Ewa Narożańska, [ ... ], Cezary Żekanowski

MitoLSDB: A Comprehensive Resource to Study Genotype to Phenotype Correlations in Human Mitochondrial DNA Variations

Shamnamole K, Saakshi Jalali, Vinod Scaria, Anshu Bhardwaj

Few Single Nucleotide Variations in Exomes of Human Cord Blood Induced Pluripotent Stem Cells

Rui-Jun Su, Yadong Yang, [ ... ], Xiao-Bing Zhang

Automated Universal BRAF State Detection within the Activation Segment in Skin Metastases by Pyrosequencing-Based Assay U-BRAF^V600

Alexander Skorokhod, Peter Helmbold, [ ... ], Roland Penzel

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