Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A9
Variant:p.W258*
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SLC22A9

NM_080866.3:p.W258*

Associated Papers

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Zhou Z et al.

Bmc Medical Genetics, 2018

The effects of URAT1/SLC22A12 nonfunctional variants, R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression.

Sakiyama M et al.

Scientific Reports, 2016

Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.

Ichida K et al.

Journal of the American Society of Nephrology : Jasn, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."