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The human UT-A isoforms that are identified as UT-A1, UT-A3, and UT-A6 are encoded by the mRNAs transcribed from the UT-Aα promoter of the human SLC14A2 gene while the UT-A2 isoform is encoded by the mRNA transcribed from the human UT-Aβ promoter

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Research shows that the length of the GAA repeat expansion correlates with both earlier age of onset and increased disease severity (Pandolfo, 2009