Abstract
Cis-acting RNA elements control the accurate expression of human multi-exon protein coding genes. Single nucleotide variants altering the fidelity of this regulatory code and, consequently, pre-mRNA splicing are expected to contribute to the etiology of numerous human diseases.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Alternative Splicing / genetics*
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Exons*
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Genetic Variation
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High-Throughput Nucleotide Sequencing
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Humans
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Mutation*
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Neoplasms / genetics
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Polymorphism, Single Nucleotide
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RNA Precursors / genetics
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Sequence Analysis, DNA