Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A3
Variant:p.H248delFs
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SLC34A3

NM_001177316.2:p.H248delFs

Associated Papers

New aspect of renal phosphate reabsorption: the type IIc sodium-dependent phosphate transporter.

Miyamoto K et al.

American Journal of Nephrology, 2007

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

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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."