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 Bork Nielsen, Suzette Sørensen, Luca Cartegni, Thomas Juhl Corydon, Thomas Koed Doktor, Lisbeth Dahl Schroeder, Line Sinnathamby Reinert, Orly Elpeleg, Adrian R Krainer, Niels Gregersen, Jørgen Kjems, Brage Storstein Andresen

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Biochemistry, Genetics and Molecular Biology