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  Indian J Med Microbiol
 

Figure 4: Results of reverse Sanger sequencing for the unaffected and one representative affected individual applied whole exome sequencing. Reverse sequencing showed that the healthy control (III-11) is wild type while the representative affected individual (II-1) is heterozygous C/T at this position. The other two affected individuals applied whole exome sequencing (IV-2 and IV-8) are heterozygous C/T and the Sanger results are shown in supplementary figure

Figure 4: Results of reverse Sanger sequencing for the unaffected and one representative affected individual applied whole exome sequencing. Reverse sequencing showed that the healthy control (III-11) is wild type while the representative affected individual (II-1) is heterozygous C/T at this position. The other two affected individuals applied whole exome sequencing (IV-2 and IV-8) are heterozygous C/T and the Sanger results are shown in supplementary figure