Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.H580P
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PHEX

NM_000444.6:p.H580P

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

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

Lin X et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment.

Quinlan C et al.

Pediatric Nephrology (berlin, Germany), 2012

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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."