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Mutation databases

The HIVToolbox 2 Web System Integrates Sequence, Structure, Function and Mutation Analysis

David P. Sargeant, Sandeep Deverasetty, [ ... ], Martin R. Schiller

Mutations in Intron 1 and Intron 22 Inversion Negative Haemophilia A Patients from Western India

Preethi S. Nair, Shrimati D. Shetty, S. Chandrakala, Kanjaksha Ghosh

ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients

Xiaoling Yang, Hua Gao, [ ... ], Yuehua Zhang

Identification of Two Novel Mutations in the PHEX Gene in Chinese Patients with Hypophosphatemic Rickets/Osteomalacia

Hua Yue, Jin-bo Yu, [ ... ], Zhen-Lin Zhang

Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing

Xiao Zhang, Xianglian Ge, [ ... ], Feng Gu

Risk of Budd-Chiari Syndrome Associated with Factor V Leiden and G20210A Prothrombin Mutation: A Meta-Analysis

Peijin Zhang, Jing Zhang, [ ... ], Zhaojun Lu

Clinical Characteristics and Immunogenetics of BCGosis/BCGitis in Chinese Children: A 6 Year Follow-Up Study

Wenjing Ying, Jinqiao Sun, [ ... ], Xiaochuan Wang

Positioning of APOBEC3G/F Mutational Hotspots in the Human Immunodeficiency Virus Genome Favors Reduced Recognition by CD8⁺ T Cells

Mahdis Monajemi, Claire F. Woodworth, [ ... ], Mani Larijani

Systematic Study on Genetic and Epimutational Profile of a Cohort of Amsterdam Criteria-Defined Lynch Syndrome in Singapore

Yanqun Liu, Min Hoe Chew, [ ... ], Choong Leong Tang

Mutation Spectrum of Six Genes in Chinese Phenylketonuria Patients Obtained through Next-Generation Sequencing

Ying Gu, Kangmo Lu, [ ... ], Jian Huang

The Geogenomic Mutational Atlas of Pathogens (GoMAP) Web System

David P. Sargeant, Michael W. Hedden, [ ... ], Martin R. Schiller

Different Frequencies of Drug Resistance Mutations among HIV-1 Subtypes Circulating in China: A Comprehensive Study

Hongshuai Sui, Tao Gui, [ ... ], Lin Li

Next Generation MUT-MAP, a High-Sensitivity High-Throughput Microfluidics Chip-Based Mutation Analysis Panel

Erica B. Schleifman, Rachel Tam, [ ... ], Rajiv Raja

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