Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A1
Variant:p.Y489C
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SLC34A1

NM_003052.5:p.Y489C

Associated Papers

Kidney stone biology: insights from genetics.

Spasiano A et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.

Cogal AG et al.

Kidney International Reports, 2021

Genetic factors of polygenic urolithiasis.

Vladimirovna FT et al.

Urologia, 2020

CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.

De Paolis E et al.

Clinical Chemistry and Laboratory Medicine, 2019

Stones: Gene variants associated with formation.

Stone L

Nature Reviews. Urology, 2015

Common and rare variants associated with kidney stones and biochemical traits.

Oddsson A et al.

Nature Communications, 2015

Rare mutations associating with serum creatinine and chronic kidney disease.

Sveinbjornsson G et al.

Human Molecular Genetics, 2014

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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."