Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.E726*
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PHEX

NM_000444.6:p.E726*

Associated Papers

A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy.

Lim WT et al.

Calcified Tissue International, 2025

A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets.

Terracciano A et al.

Endocrine, Metabolic & Immune Disorders Drug Targets, 2023

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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