Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A3
Variant:p.L524fs
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SLC34A3

NM_001177316.2:p.L524fs

Associated Papers

Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH).

Stürznickel J et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022

How the diagnosis and the management of genetic renal phosphate leak impact the life of kidney stone formers?

Tostivint IN et al.

Urolithiasis, 2022

Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.

Lenherr-Taube N et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

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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."