Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.L418R
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SLC22A12

NM_144585.4:p.L418R

Associated Papers

Possible Use of Non-purine Selective Xanthine Oxidoreductase Inhibitors for Prevention of Exercise-induced Acute Kidney Injury Associated with Renal Hypouricemia.

Aizawa C 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

Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes.

Cha DH et al.

Scientific Reports, 2019

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

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

Absence of SLC22A12 gene mutations in Greek Caucasian patients with primary renal hypouricaemia.

Tzovaras V et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2007

Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia.

Wakida N et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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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."