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SLC34A3 gene

Known as: NPTIIC, SLC34A3, SODIUM/INORGANIC PHOSPHATE COTRANSPORTER, TYPE IIC 
 
National Institutes of Health

Papers overview

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2020
2020
Phosphate is an essential component of nucleic acids, cell membranes and bones, and is important for enzymatic interactions… Expand
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2019
2019
Mutations in the SLC34A3 gene, encoding the sodium/phosphate cotransporter 2C (NPTIIc), induce decreased renal phosphate… Expand
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2018
2018
BACKGROUND Hereditary hypophosphatemia is a group of rare renal phosphate wasting disorders. The diagnosis is based on clinical… Expand
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2017
2017
OBJECTIVE To identify a genetic basis for markedly reduced bone density and multiple fractures in an adult patient with… Expand
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2016
2016
Massively parallel sequencing of whole genomes and exomes has facilitated a direct assessment of causative genetic variation, now… Expand
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2014
2014
Background: Mutations in SLC34A3 have been shown to cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH… Expand
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2014
2014
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder inherited in an autosomal recessive… Expand
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2012
2012
This study aimed to identify the underlying genetic mutation in patients with hypophosphatemic rickets (HR). Genomic DNA was… Expand
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2008
2008
The present study describes two novel compound heterozygous mutations, c.410C>T(p.T137M) (T137M) on the maternal and g.4225_50del… Expand
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Highly Cited
2006
Highly Cited
2006
Hypophosphatemia due to isolated renal phosphate wasting results from a heterogeneous group of disorders. Hereditary… Expand
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