Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A3
Variant:p.A100T
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SLC17A3

NM_001098486.2:p.A100T

Associated Papers

Linkage analysis using whole exome sequencing data implicates SLC17A1, SLC17A3, TATDN2 and TMEM131L in type 1 diabetes in Kuwaiti families.

Hebbar P et al.

Scientific Reports, 2023

Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation.

Teng L et al.

Annals of Translational Medicine, 2020

Additive composite ABCG2, SLC2A9 and SLC22A12 scores of high-risk alleles with alcohol use modulate gout risk.

Tu HP et al.

Journal of Human Genetics, 2016

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis.

Kostalova E et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

Apical voltage-driven urate efflux transporter NPT4 in renal proximal tubule.

Jutabha P et al.

Nucleosides, Nucleotides & Nucleic Acids, 2011

Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia.

Stiburkova B et al.

Molecular Genetics and Metabolism, 2011

Functional analysis of human sodium-phosphate transporter 4 (NPT4/SLC17A3) polymorphisms.

Jutabha P et al.

Journal of Pharmacological Sciences, 2011

Functional Analysis of Human Sodium-Phosphate Transporter 4 (NPT4/SLC17A3) Polymorphisms.

Jutabha P et al.

Journal of Pharmacological Sciences, 2011

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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."