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Mutation databases

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

Xiaoming Wei, Xiangchun Ju, [ ... ], Jian Huang

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, [ ... ], Yi-Chung Lee

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

Maximilian G. Posch, Stephan Waldmuller, [ ... ], Cemil Özcelik

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

Gurinder Gosal, Krys J. Kochut, Natarajan Kannan

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, [ ... ], for the EuroSIDA and the United Kingdom CHIC/United Kingdom HDRD Studies

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

Man Zhou, Xuelei Geng, [ ... ], Hongping Wei

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

Scott Seronello, Jessica Montanez, [ ... ], Jinah Choi

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

Bruno A. Benitez, David Alvarado, [ ... ], Carlos Cruchaga

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

Gabriel Renaud, Pedro Neves, [ ... ], Fabio Passetti

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

Mohammed Alanazi, Zainularifeen Abduljaleel, [ ... ], Mohammad D. Bazzi

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

Claudia Scotti, Carla Olivieri, [ ... ], Cesare Danesino

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, [ ... ], Surendra Kumar Bansal

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

Kaori Shima, Teppei Morikawa, [ ... ], Shuji Ogino

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