Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A3
Variant:p.G166C
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SLC34A3

NM_001177316.2:p.G166C

Associated Papers

A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc.

Jaureguiberry G et al.

American Journal of Physiology. Renal Physiology, 2008

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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."