Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.C85S
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PHEX

NM_000444.6:p.C85S

Associated Papers

Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype-Genotype Correlation.

Olivas-Valdez MA et al.

Diagnostics (basel, Switzerland), 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

Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation.

Zheng B et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020

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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."