Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.G65W
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SLC22A12

NM_144585.4:p.G65W

Associated Papers

Trends in the Contribution of Genetic Susceptibility Loci to Hyperuricemia and Gout and Associated Novel Mechanisms.

Zhao J et al.

Frontiers in Cell and Developmental Biology, 2022

Genetic Diversity in Drug Transporters: Impact in African Populations.

Rajman I et al.

Clinical and Translational Science, 2020

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

Tin A et al.

Nature Communications, 2018

30315176 (PubMed )
Supplement: 41467_2018_6620_MOESM3_ESM.pdf

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

URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.

Claverie-Martin F et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018

An update on the genetics of hyperuricaemia and gout.

Major TJ et al.

Nature Reviews. Rheumatology, 2018

Replication of Gout/Urate Concentrations GWAS Susceptibility Loci Associated with Gout in a Han Chinese Population.

Li Z et al.

Scientific Reports, 2017

Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.

Tin A et al.

Human Molecular Genetics, 2011

Clinical and functional characterization of URAT1 variants.

Tasic V et al.

Plos One, 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."