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. 2017 Feb 16;11:1. doi: 10.1186/s40246-017-0098-2

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© The Author(s). 2017

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 — Novel variants in CHH genes. Just one novel variant in PROKR2 was found (p.W352G). This change found in patient 171, c.T1054G:p.W352G, is heterozygous and has good quality and depth (a). This change falls on a highly conserved residue (b) and lies within the cytoplasmic tail of this transmembrane receptor (c). Three novel variants in WDR11 were found in our cohort—all of which affect a highly conserved residue (d)