Associated Papers
Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia.
Tise CG et al.
Genetics in Medicine Open, 2025
Rare variant analyses in large-scale cohorts identified SLC13A1 associated with chronic pain.
Ao X et al.
Pain, 2023
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM8_ESM.xlsx › Deleterious_variants
Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.
van de Kamp JM et al.
Clinical Genetics, 2023
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
Bjornsdottir G et al.
Nature Communications, 2022
Sex-specific effects of serum sulfate level and SLC13A1 nonsense variants on DHEA homeostasis.
Tise CG et al.
Molecular Genetics and Metabolism Reports, 2017
From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.
Tise CG et al.
G3 (bethesda, Md.), 2016
Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.
Hallengren E et al.
Plos One, 2015
26086970 (PubMed )
Supplement: pone.0128348.s002.xlsx › Sheet1
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