Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A12
Variant:p.S508N
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SLC22A12

NM_144585.4:p.S508N

Associated Papers

Biochemical characterization of renal hypouricemia-associated mutations in urate transporter genes using human cells.

Toyoda Y et al.

Human Cell, 2024

New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions.

Perdomo-Ramírez A et al.

Genes, 2023

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