Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.R406C
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SLC22A12

NM_144585.4:p.R406C

Associated Papers

Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels.

Tin A et al.

Nature Communications, 2018

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

Novel increasing dose regimen of tolvaptan for autosomal dominant polycystic kidney disease in patient with low tolerability.

Nakatani S et al.

Nephrology (carlton, Vic.), 2018

URAT1 mutations cause renal hypouricaemia combined with Fanconi syndrome in a Chinese patient.

Du J et al.

Nephrology (carlton, Vic.), 2018

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

URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews.

Dinour D et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2011

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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."