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. 2020 Jul 23;8:321. doi: 10.3389/fped.2020.00321

Figure 2.

Figure 2

Whole-exome sequencing (WES) paired-end reads are loaded in the IGV genome browser and are shown for each patient. (A) The heterozygous mutation, c.365A>T, in patient 1. (B) The heterozygous mutation, IVS7+1G>A, in patient 2. (C) Location of the point mutations in the OTC gene.