Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.E298D
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SLC22A12

NM_144585.4:p.E298D

Associated Papers

The role of genetics in maternal susceptibility to preeclampsia in women of African ancestry.

Ishmail H et al.

Journal of Reproductive Immunology, 2023

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

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

Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.

Dinour D et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012

Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout.

Vázquez-Mellado J et al.

Rheumatology (oxford, England), 2007

Mutational analysis of idiopathic renal hypouricemia in Korea.

Cheong HI et al.

Pediatric Nephrology (berlin, Germany), 2005

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

Takahashi T et al.

Pediatric Nephrology (berlin, Germany), 2005

The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia.

Komoda F et al.

Pediatric Nephrology (berlin, Germany), 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."