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FGF23 and its role in X-linked hypophosphatemia-related morbidity | Orphanet Journal of Rare Diseases | Full Text
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Functional Characterization of PHEX Gene Variants in Children With X‐Linked Hypophosphatemic Rickets Shows No Evidence of Genotype–Phenotype Correlation - Zheng - 2020 - Journal of Bone and Mineral Research - Wiley Online Library
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Frontiers | Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia
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A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family - Li - 2020 - Molecular Genetics & Genomic Medicine - Wiley
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Schematic representation of the PHEX gene with the localization of the... | Download Scientific Diagram
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Figure 2 from A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets | Semantic Scholar
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Dual putative local/systemic function of PHEX in normal mineralization... | Download Scientific Diagram
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Organization of the coding region of the PHEX/Phex gene. Exons numbered... | Download Scientific Diagram
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Genotype–phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling - ScienceDirect
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Genes | Free Full-Text | PHEXL222P Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease
Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets | PLOS ONE
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Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription | Cell Death & Disease
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