Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A1
Variant:p.P527del1
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SLC34A1

NM_003052.5:p.P527del1

Associated Papers

Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis.

Naciri Bennani H et al.

Pediatric Nephrology (berlin, Germany), 2025

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.

Bergwitz C 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."