Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.Q297*
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SLC22A12

NM_144585.4:p.Q297*

Associated Papers

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

Toyoda Y et al.

Rheumatology (oxford, England), 2021

Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation.

Teng L et al.

Annals of Translational Medicine, 2020

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

Rare case of nephrocalcinosis in the distal tubules caused by hereditary renal hypouricaemia 3 months after kidney transplantation.

Okabayashi Y et al.

Nephrology (carlton, Vic.), 2016

Molecular background of urate transporter genes in patients with exercise-induced acute kidney injury.

Kaito H et al.

American Journal of Nephrology, 2013

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

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

Acute renal failure with severe loin pain and patchy renal ischaemia after anaerobic exercise (ALPE) (exercise-induced acute renal failure) in a father and child with URAT1 mutations beyond the W258X mutation.

Ishikawa I et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2005

Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese.

Takahashi T et al.

Pediatric Nephrology (berlin, Germany), 2005

Peris Vidal A et al.

Nefrologia, 0

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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."