Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A3
Variant:p.R564C
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SLC34A3

NM_001177316.2:p.R564C

Associated Papers

Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.

Bergwitz C et al.

Pflugers Archiv : European Journal of Physiology, 2019

Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria.

Haito-Sugino S et al.

American Journal of Physiology. Cell Physiology, 2012

The roles of Na/Pi-II transporters in phosphate metabolism.

Segawa H et al.

Bone, 2009

Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function.

Yamamoto T et al.

Journal of Bone and Mineral Metabolism, 2007

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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."