Distribution and effects of nonsense polymorphisms in human genes

Keyphrases

• Single nucleotide Polymorphism 100%
• Polymorphism 100%
• Human Genes 100%
• Nonsense 100%
• NsSNPs 16%
• Nonsense-mediated Decay 16%
• Pathogenic Variants 11%
• Genetic Variation 11%
• Codon 11%
• Gene Function 11%
• Termination Codon 11%
• Readthrough 11%
• Amino Acids 5%
• Polypeptide 5%
• Low Density 5%
• Human Genome 5%
• Exon 5%
• Gene Products 5%
• Protein-coding Genes 5%
• Truncation 5%
• Kinase Activity 5%
• Publicly Available 5%
• DbSNP 5%
• Small Fraction 5%
• Nonsense mutation 5%
• Phenotypic Effects 5%
• Phenotypic Variation 5%
• Amino Acid Variation 5%
• Comprehensive Exploration 5%

Biochemistry, Genetics and Molecular Biology

• Single-Nucleotide Polymorphism 100%
• Codon 19%
• Nonsense-Mediated Decay 14%
• Genetic Variation 9%
• Amino Acids 9%
• Gene Function 9%
• Kinase 4%
• Phosphotransferase 4%
• Indel 4%
• Human Genome 4%
• Exon 4%
• Gene Product 4%
• Nonsense Mutation 4%
• Phenotypic Variation 4%