Article
A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs.
American journal of human genetics - 1 Feb 2009
Yngvadottir Bryndis, Xue Yali, Searle Steve, Hunt Sarah, Delgado Marcos, Morrison Jonathan, Whittaker Pamela, Deloukas Panos, Tyler-Smith Chris
Abstract excerpt
Nonsense SNPs introduce premature termination codons into genes and can result in the absence of a gene product or in a truncated and potentially harmful protein, so they are often considered disadvantageous and are associated with disease susceptibility. As such, we might expect the disrupted al...
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