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. 2018 Mar 7;19:40. doi: 10.1186/s12881-018-0549-1

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© The Author(s). 2018

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. 2 — a Direct sequencing of the WRAP53 gene identified a homozygous mutation (c.C892T, p.R298W) in the proband with DC. b Direct sequencing of the WRAP53 gene revealed that the proband’s parents and sister harbored the heterozygous mutation. c (Top) Location of the mutated nucleotides in the scheme of the WRAP53 nucleotide structure. (Middle) Location of the mutated amino acid in the scheme of the WRAP53 protein structure. (Bottom) Multi-species sequence comparison of WRAP53 shows that R298 is evolutionarily conserved