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. 2020 Jan 8;21:10. doi: 10.1186/s12881-019-0946-0

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© The Author(s). 2020

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 — Representation of CHD2 variant adapted from the DECIPHER browser. The heterozygous transition in CHD2 (NM_001271.3: c.4003G > T) is predicted to produce a premature stop codon, p.(Glu1335*), which likely brings on non-mediated decay (NMD) so that no protein could be produced