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. 2021 Dec 5;43(2):143–157. doi: 10.1002/humu.24296

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© 2021 The Authors. Human Mutation published by Wiley Periodicals LLC

This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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graphic file with name HUMU-43-143-g003.jpg — Positions of 870 unique PHEX variants. (a) Variants that span multiple exons (copy number variants and complex rearrangements) are represented by lines above the exon map and intron‐specific variants are clustered by loci below. Del, deletion (grey lines); dup, duplication (blue lines). (b) Exon‐specific variants clustered by loci. Variants are indicated by affected nucleotides, affected amino acids, or affected exons, depending upon the limits of the detection techniques employed. ins, insertion; delins, combination deletion/insertion; >, substitution; ?, nucleotide boundary as approximated by detection method. PHEX, Phosphate regulating gene with Homology to Endopeptidases that maps to the X chromosome

graphic file with name HUMU-43-143-g004.jpg — Positions of 870 unique PHEX variants. (a) Variants that span multiple exons (copy number variants and complex rearrangements) are represented by lines above the exon map and intron‐specific variants are clustered by loci below. Del, deletion (grey lines); dup, duplication (blue lines). (b) Exon‐specific variants clustered by loci. Variants are indicated by affected nucleotides, affected amino acids, or affected exons, depending upon the limits of the detection techniques employed. ins, insertion; delins, combination deletion/insertion; >, substitution; ?, nucleotide boundary as approximated by detection method. PHEX, Phosphate regulating gene with Homology to Endopeptidases that maps to the X chromosome