Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.G164S
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SLC22A12

NM_144585.4:p.G164S

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

Genetic Heterogeneity of SLC22 Family of Transporters in Drug Disposition.

Lozano E et al.

Journal of Personalized Medicine, 2018

Discovery of URAT1 SNPs and association between serum uric acid levels and URAT1.

Cho SK et al.

Bmj Open, 2015

A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1.

Ochi A et al.

Clinical and Experimental Nephrology, 2012

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese.

Ichida K et al.

Clinical Genetics, 2008

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

Mutational analysis of idiopathic renal hypouricemia in Korea.

Cheong HI et al.

Pediatric Nephrology (berlin, Germany), 2005

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."