Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.G585R
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PHEX

NM_000444.6:p.G585R

Associated Papers

Effect of burosumab conversion on calciuria and nephrocalcinosis in children with XLH: A real-world cohort study.

Filler G et al.

Bone Reports, 2025

Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).

Sarafrazi S et al.

Human Mutation, 2022

34806794 (PubMed )
Supplement: HUMU-43-143-s001.xlsx › Table_S1-_870_PHEX_variants

[Mutation analysis of four pedigrees affected with hypophosphatemic rickets through targeted next-generation sequencing].

Bai Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018

Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.

Su PH et al.

In Vivo (athens, Greece), 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."