Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.E581*
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PHEX

NM_000444.6:p.E581*

Associated Papers

Successful Burosumab Treatment in an Adult Patient with X-Linked Hypophosphatemia and Chronic Kidney Disease Stage 3b.

Michon-Colin A et al.

Calcified Tissue International, 2024

X-linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro.

Sant' Ana I et al.

Molecular Genetics & Genomic Medicine, 2022

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."