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. 2022 Aug 4;13(8):1392. doi: 10.3390/genes13081392

Table 4.

The c.565C > T (p.Gln189Ter) mutation in literature.

Author Title References
Yamazaki Y et al. Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia [34]
Zhang C et al. Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia. [35]
Morey M et al. Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type [36]
Vila-Pérez D et al. Four Cases of X-Linked Hypophosphatemic Rickets, Clinical Description and Genetic Testing [37]