Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A3
Variant:p.G239V
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SLC17A3

NM_001098486.2:p.G239V

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

Evolutionary history of disease-susceptibility loci identified in longitudinal exome-wide association studies.

Yasukochi Y et al.

Molecular Genetics & Genomic Medicine, 2019

Identification of 12 novel loci that confer susceptibility to early-onset dyslipidemia.

Yamada Y et al.

International Journal of Molecular Medicine, 2019

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

Jutabha P et al.

Nucleosides, Nucleotides & Nucleic Acids, 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."