Figure 3
![Figure 3](http://media.springernature.com/full/springer-static/image/art%3A10.1186%2F1471-2350-11-79/MediaObjects/12881_2009_Article_640_Fig3_HTML.jpg)
Sequencing chromatograms of pathogenic variants identified in this work. Sequencing chromatograms of pathogenic variants c.1194T > A/p.D398E, c.1740delC/p.s581PfsX40 and c.1780G>A/p.E594K. Two columns are sequencing chromatograms of variants carriers and control. Corresponding variants locations are indicated by arrows