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. Author manuscript; available in PMC: 2019 Aug 5.
Published in final edited form as: Gene. 2018 May 4;666:145–157. doi: 10.1016/j.gene.2018.04.087

Figure 4. Distribution of PAX3 mutations in Waardenburg syndrome.

Figure 4.

The displayed genetic changes include missense mutations, truncating mutations (nonsense and frameshift deletion) and others (frameshift duplications, frameshift mutation, insertions, and deletions). The diagram was generated using Mutation Mapper software (Vohra and Biggin, 2013) and data were partially collected from (Pingault et al., 2010).