Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.R651_R655del0
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PHEX

NM_000444.6:p.R651_R655del0

Associated Papers

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

PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets.

Song HR et al.

Journal of Korean Medical Science, 2007

Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.

Lo FS et al.

Nephron. Physiology, 2006

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."