Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A3
Variant:p.G191S
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SLC34A3

NM_001177316.2:p.G191S

Associated Papers

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

Bergwitz C et al.

Pflugers Archiv : European Journal of Physiology, 2019

Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.

Park JH et al.

Translational Oncology, 2018

29925043 (PubMed )
Supplement: mmc3.xlsx › Table_6

Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.

Dhir G et al.

Bone, 2017

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."