Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A3
Variant:p.F453del1
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SLC34A3

NM_001177316.2:p.F453del1

Associated Papers

Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review.

Dodamani MH et al.

Calcified Tissue International, 2024

Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature.

Christensen S et al.

Hormone Research in Paediatrics, 2021

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

Bergwitz C et al.

Pflugers Archiv : European Journal of Physiology, 2019

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.

Dasgupta D et al.

Journal of the American Society of Nephrology : Jasn, 2014

HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW.

Bhadada SK et al.

Aace Clinical Case Reports, 0

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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."