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Mutation databases

DNA mutation motifs in the genes associated with inherited diseases

Michal Růžička, Petr Kulhánek, [ ... ], Kamila Réblová

Applying Physics-Based Scoring to Calculate Free Energies of Binding for Single Amino Acid Mutations in Protein-Protein Complexes

Hege Beard, Anuradha Cholleti, [ ... ], Kathryn A. Loving

Frequency and Pattern of Heteroplasmy in the Complete Human Mitochondrial Genome

Amanda Ramos, Cristina Santos, [ ... ], Maria Pilar Aluja

BRAF V600E Mutations Are Common in Pleomorphic Xanthoastrocytoma: Diagnostic and Therapeutic Implications

Dora Dias-Santagata, Quynh Lam, [ ... ], Sandro Santagata

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

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

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

Annalaura Torella, Mariateresa Zanobio, [ ... ], Vincenzo Nigro

Sequence and Structure Signatures of Cancer Mutation Hotspots in Protein Kinases

Anshuman Dixit, Lin Yi, [ ... ], Gennady M. Verkhivker

Identification of BRCA1/2 Founder Mutations in Southern Chinese Breast Cancer Patients Using Gene Sequencing and High Resolution DNA Melting Analysis

Ava Kwong, Enders Kai On Ng, [ ... ], Edmond Siu Kwan Ma

Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

Shuzhi Yang, Pu Dai, [ ... ], Huijun Yuan

Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil

Dirce Maria Carraro, Maria Aparecida Azevedo Koike Folgueira, [ ... ], Maria Mitzi Brentani

HuVarBase: A human variant database with comprehensive information at gene and protein levels

Kaliappan Ganesan, A. Kulandaisamy, S. Binny Priya, M. Michael Gromiha

Assessing Predictors of Changes in Protein Stability upon Mutation Using Self-Consistency

Grant Thiltgen, Richard A. Goldstein

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

Amélie Bonnefond, Emmanuelle Durand, [ ... ], Philippe Froguel

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