Figure 2 | Scientific Reports

Figure 2

From: Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

Figure 2

Summary of findings during cascade TMPRSS mutation screening by ISVS in a cohort of HI subjects. WES – whole exome sequencing; arrows – cycles of Real Time PCR screening; filled boxes - variants found by Sanger sequencing, (number of samples with each variant is given in parentheses); italics – variants observed at a previous stage.

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