What is it about?
A variant R380W in GLUT9/SLC2A9 causes renal hypouricemia type 2.
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Why is it important?
Genetic cause of renal hypouricemia is reported.
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This page is a summary of: Identification of a Hypouricemia Patient with SLC2A9 R380W, A Pathogenic Mutation for Renal Hypouricemia Type 2, Nucleosides Nucleotides & Nucleic Acids, April 2014, Taylor & Francis,
DOI: 10.1080/15257770.2013.857781.
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