Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A9
Variant:p.T125R
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SLC2A9

NM_020041.3:p.T125R

Associated Papers

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

Human Mutations in SLC2A9 (Glut9) Affect Transport Capacity for Urate.

Ruiz A et al.

Frontiers in Physiology, 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

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.

Vitart V et al.

Nature Genetics, 2008

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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."