Article
Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis
2020-09-02
Abstract excerpt
<h4>Summary</h4> Rare monogenic disorders of the primary cilium, termed ciliopathies, are characterized by extreme presentations of otherwise-common diseases, such as diabetes, hepatic fibrosis, and kidney failure. However, despite a revolution in our understanding of the cilium’s role in rare disease pathogenesis, the organelle’s contribution to common disease remains largely unknown. We hypothesized that common...
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Identifiers and source
- Literature Corpus work
- 3696d727-62ac-5619-a3bd-710a32bc8700
- DOI
- 10.1101/2020.08.31.275685