Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A3
Variant:p.G90D
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SLC17A3

NM_001098486.2:p.G90D

Associated Papers

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

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."