Associated Papers
Intragenic duplication of PHEX in a girl with X-linked hypophosphatemia: a case report with review of literature.
Akiba K et al.
Endocrine Journal, 2025
Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.
Liu Y et al.
Human Genome Variation, 2023
37217505 (PubMed )
Supplement: 41439_2023_238_MOESM1_ESM.xlsx › Sheet1
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
Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation.
Zheng B et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
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