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Article

Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort

18 Apr 2019

Abstract excerpt

ATP-binding cassette subfamily G member 2 (ABCG2) is a physiologically important urate transporter. Accumulating evidence demonstrates that congenital dysfunction of ABCG2 is an important genetic risk factor in gout and hyperuricemia; recent studies suggest the clinical significance of both common and rare variants of ABCG2. However, the effects of rare variants of ABCG2 on the risk of such diseases are not fully...

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Share to Gout, Hyperuricemia, Uric Acid

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31003562
DOI: 10.3390/cells8040363

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