Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8344042 | Molecular Genetics and Metabolism | 2013 | 7 Pages |
Abstract
This study is a proof of principle that synonymous SNPs are not neutral. By changing the binding sites for splicing regulatory proteins they can have significant effects on pre-mRNA splicing and thus protein function. In addition, this study shows that for a sequence variation to have an effect, it might need to change the balance in the relative binding of positive and negative splicing factors.
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Authors
Gitte Hoffmann Bruun, Thomas Koed Doktor, Brage Storstein Andresen,