Varaico: Literature-Extracted Genetic Variants

Gene:PHEX
Variant:p.I548T
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PHEX

NM_000444.6:p.I548T

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

Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia.

Xu T et al.

Frontiers in Endocrinology, 2022

36060934 (PubMed )
Supplement: DataSheet_1.pdf
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