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Identification of a Dysfunctional Exon-Skipping Splice Variant in GLUT9/SLC2A9 Causal for Renal Hypouricemia Type 2

Yu Toyoda,Sung Kweon Cho,Velibor Tasic,Katerina Pavelcova,Jana Bohata,Hiroshi Suzuki,Victor A. David,Jaeho Yoon, Anna Pallaiova,Jana Saligova,Darryl Nousome,Raul Cachau,Cheryl A. Winkler,Tappei Takada,Blanka Stiburkova

Frontiers in Genetics（2023）

引用 5|浏览0
关键词
genetic disorder,renal urate handling,RHUC,splicing variant,urate
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