Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.C77R
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PHEX

NM_000444.6:p.C77R

Associated Papers

Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.

Wu H et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia.

Lin X et al.

Frontiers in Cell and Developmental Biology, 2021

Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.

Li SS et al.

International Journal of Molecular Medicine, 2016

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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."