Article ID Journal Published Year Pages File Type
8344042 Molecular Genetics and Metabolism 2013 7 Pages PDF
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
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