Associated Papers
Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets.
Tavana N et al.
Italian Journal of Pediatrics, 2022
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
Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease.
Treff NR et al.
Fertility and Sterility, 2013
Mutational analysis of patients with FGF23-related hypophosphatemic rickets.
Kinoshita Y et al.
European Journal of Endocrinology, 2012
Select a paper to view details