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. Author manuscript; available in PMC: 2018 May 16.
Published in final edited form as: Nature. 2014 Dec 24;519(7542):223–228. doi: 10.1038/nature14135

Figure 3. Five novel genes with clustered mutations.

Figure 3

The domains (blue), post-translational modifications, and mutation locations (red stars) are shown for five proteins with highly clustered de novo mutations in unrelated children with severe, undiagnosed DDs. For two proteins (COL4A3BP and PCGF2) where all observed mutations are identical, photos are shown to highlight the facial similarities of patients carrying the same mutation.