Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A3
Variant:p.G191R
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SLC34A3

NM_001177316.2:p.G191R

Associated Papers

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

Bergwitz C et al.

Pflugers Archiv : European Journal of Physiology, 2019

A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.

Chi Y et al.

Bone, 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."