Associated Papers
Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.
Urban GM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
38544324 (PubMed )
Supplement: gfae074_Supplemental_Files.zip › Suppl_Table_2.xlsx › Suppl_Variant_Table
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.
Schönauer R et al.
Urolithiasis, 2019
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
Lorenz-Depiereux B et al.
American Journal of Human Genetics, 2006
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW.
Bhadada SK et al.
Aace Clinical Case Reports, 0
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