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. 2018 Jan 20;6(2):160–170. doi: 10.1002/mgg3.342

Figure 1.

Figure 1

CBS map showing the location of the mutations found. Exons are represented by solid gray boxes. Novel mutations are shown in bold. An asterisk (*) indicates mutations found in more than one unrelated patient. Adapted from Kraus, 2017 (Kraus, 2017)