Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.G579E
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PHEX

NM_000444.6:p.G579E

Associated Papers

Genetic analysis of three families with X-linked dominant hypophosphatemic rickets.

Lin X et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

Novel and de novo PHEX mutations in patients with hypophosphatemic rickets.

Durmaz E et al.

Bone, 2013

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

Lo FS et al.

Nephron. Physiology, 2006

Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.

Filisetti D et al.

European Journal of Human Genetics : Ejhg, 1999

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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."