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Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer

Karsten Nielsen, Suzette Sørensen, Luca Cartegni, Thomas J. Corydon, Thomas Koed Doktor, Lisbeth Dahl Schroeder, Line S. Reinert, Orly Elpeleg, Adrian R. Krainer, Niels Gregersen,

The American Journal of Human Genetics · 2007 · 149 citations · 50 references

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

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ESEfinder: a web resource to identify exonic splicing enhancers

Luca Cartegni · Nucleic Acids Research · 2003 · 1.6K citations · Full text

, , +14

A single nucleotide in the <i>SMN</i> gene regulates splicing and is responsible for spinal muscular atrophy

Christian L. Lorson, Eric Hahnen, Elliot J. Androphy et al. · Proceedings of the National Academy of Sciences · 1999 · 1.5K citations

, , +17

Predictive Identification of Exonic Splicing Enhancers in Human Genes

William G. Fairbrother, Ru‐Fang Yeh, Phillip A. Sharp et al. · Science · 2002 · 1K citations

, , +16

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2

U. R. Monani · Human Molecular Genetics · 1999 · 944 citations

, , +12