Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A1
Variant:p.G402R
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SLC34A1

NM_003052.5:p.G402R

Associated Papers

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

Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations.

Hureaux M et al.

Pediatric Nephrology (berlin, Germany), 2018

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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."