Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.P534S
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PHEX

NM_000444.6:p.P534S

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

Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.

Guven A et al.

Clinical Endocrinology, 2017

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