Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A7
Variant:p.L75R
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SLC2A7

NM_207420.3:p.L75R

Associated Papers

Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).

Perdomo-Ramirez A et al.

International Journal of Molecular Sciences, 2023

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

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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."