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. 2016 Oct 10;17(Suppl 1):67. doi: 10.1186/s12881-016-0329-8

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© The Author(s). 2016

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 1 — Sanger sequencing validation of the identified pathogenic variants (a) and the Integrated Genome Viewer view of the Ion Torrent BAM file generated by the targeted sequencing using our custom-made HI panel demonstrating the detection of the p. Glu747Ter/c.2239C > A mutation in the OTOF gene (b)