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Mechanistic phenotypes: An aggregative phenotyping strategy to identify disease mechanisms using GWAS data
Published Web Location
http://europepmc.org/articles/PMC3861317?pdf=renderNo data is associated with this publication.
Abstract
A single mutation can alter cellular and global homeostatic mechanisms and give rise to multiple clinical diseases. We hypothesized that these disease mechanisms could be identified using low minor allele frequency (MAF<0.1) non-synonymous SNPs (nsSNPs) as
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