Fig. 4
From: Identification of six novel variants from nine Chinese families with hypophosphatemic rickets
Genotypic characterization of PHEX mutations. A Mutation spectrum of PHEX. Each numbered box represents a corresponding exon in PHEX. Numbers of missense/nonsense mutations (blue), splicing substitutions (yellow), small deletions (red), and small insertions (green) are presented above the 22 exons. The novel variants found in this study are listed below in pink, while previously reported variants found in this study are listed below in brown. B Distribution of mutations in PHEX (HGMD Professional, release 2020.04). C Distribution of mutations in each exon of PHEX (HGMD Professional, release 2020.04)