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. 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984

Figure 2.

Figure 2.

Exome sequencing revealed a mutation in TUBB3. Shown here is the Sanger confirmation and the exome-sequencing visualization of the de novo mutation identified in patient 6 in the gene TUBB3 (g.Chr16:90,002,087(G>A); NM_006086.3:c.1228G>A; p.Glu410Lys).