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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 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
  • Aarhus Universitetshospital

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Biochemistry, Genetics and Molecular Biology