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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
Nielsen KB,
Sorensen S,
Cartegni L,
Corydon TJ,
Doktor TK,
Schroeder LD,
Reinert LS,
Elpeleg O,
Krainer AR,
Gregersen N,
Kjems J,
Andresen BS

American Journal of Human Genetics
  80 (3): 416-432; Mar 2007  
[Abstract]
[PDF]


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