Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.A209V
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SLC22A12

NM_144585.4:p.A209V

Associated Papers

Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.

Mou L et al.

Molecular Diagnosis & Therapy, 2024

Renal hypouricemia complicated with kidney stone: a case report.

Yang Y et al.

Frontiers in Medicine, 2024

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels.

Misawa K et al.

Genetics, 2020

Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia.

Sugihara S et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2015

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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."