Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.F379L
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SLC22A12

NM_144585.4:p.F379L

Associated Papers

Characterization of Urate Metabolism and Complications of Patients with Renal Hypouricemia.

Miyazaki S et al.

Internal Medicine (tokyo, Japan), 2023

Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.

Toyoda Y et al.

Rheumatology (oxford, England), 2021

Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia.

Sugihara S et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2015

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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."