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. Author manuscript; available in PMC: 2017 Aug 1.
Published in final edited form as: J Hum Genet. 2015 Mar 26;60(7):363–369. doi: 10.1038/jhg.2015.31

Figure 1.

Figure 1

The c.-2A>G sequence change in RARS2 identified in the patients. (a) The sequence change identified by NGS in proband Pt10. (b) Sanger sequencing confirmation showing the sequence change in homozygous state in Pt10 and his sister Pt11, and in heterozygous state in their parents. A full color version of this figure is available at the Journal of Human Genetics journal online.