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
A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets.
Yang M et al.
Annals of Pediatric Endocrinology & Metabolism, 2018
A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.
Kim J et al.
Annals of Clinical and Laboratory Science, 2009
PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets.
Song HR et al.
Journal of Korean Medical Science, 2007
A clinical and molecular genetic study of hypophosphatemic rickets in children.
Cho HY et al.
Pediatric Research, 2005
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