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  • Title: Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome.
    Author: Kavanagh D, Anderson HE.
    Journal: Kidney Int; 2012 Jan; 81(1):11-3. PubMed ID: 22170528.
    Abstract:
    Mutations in complement proteins predispose to atypical hemolytic uremic syndrome (aHUS). Mutation screening in aHUS is challenging, because most of the disease-associated mutations are individually rare, and a significant proportion of variants consist of missense mutations of unknown significance. The definitive interpretation of a variant of unknown significance (VUS) is often dependent on a reliable functional assay too time-consuming to be used in a diagnostic screening service. Allied research groups have analyzed these VUSs in aHUS.
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