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Mutation databases

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

Youwen Tan, Keqin Ding, [ ... ], Rongbin Yu

Combining Structural Modeling with Ensemble Machine Learning to Accurately Predict Protein Fold Stability and Binding Affinity Effects upon Mutation

Niklas Berliner, Joan Teyra, [ ... ], Philip M. Kim

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

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

SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data

Maria Fischer, Rene Snajder, [ ... ], Gernot Stocker

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

Shabana Vohra, Philip C. Biggin

Computational Screening and Molecular Dynamic Simulation of Breast Cancer Associated Deleterious Non-Synonymous Single Nucleotide Polymorphisms in TP53 Gene

Kumaraswamy Naidu Chitrala, Suneetha Yeguvapalli

A novel RNA sequencing data analysis method for cell line authentication

Erik Fasterius, Cinzia Raso, [ ... ], Cristina Al-Khalili Szigyarto

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Louis Viollet, Gustavo Glusman, [ ... ], Kathryn J. Swoboda

Association of SMAD4 mutation with patient demographics, tumor characteristics, and clinical outcomes in colorectal cancer

Amir Mehrvarz Sarshekeh, Shailesh Advani, [ ... ], Scott Kopetz

IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

Petros Kountouris, Carsten W. Lederer, [ ... ], Marina Kleanthous

Tumorigenicity-associated characteristics of human iPS cell lines

Satoshi Yasuda, Shinji Kusakawa, [ ... ], Yoji Sato

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

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

Clinical Validation of Targeted Next Generation Sequencing for Colon and Lung Cancers

Nicky D’Haene, Marie Le Mercier, [ ... ], Isabelle Salmon

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