Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A1
Variant:p.P146L
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SLC34A1

NM_003052.5:p.P146L

Associated Papers

Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1.

Bizerea-Moga TO et al.

Children (basel, Switzerland), 2023

Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.

Janiec A et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021

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

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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."