Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.F80S
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PHEX

NM_000444.6:p.F80S

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

Novel regulators of phosphate homeostasis and bone metabolism.

Jüppner H

Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2007

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

Lo FS et al.

Nephron. Physiology, 2006

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