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. 2021 Aug 17;8:34. doi: 10.1038/s41439-021-00165-7

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© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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 images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — Diagram of previously reported CHAMP1 variants (upper panel) and the mutation identified in this case (lower panel, underlined). CHAMP1 consists of five zinc-finger domains (ZNF) and several motifs; SPE (consensus: PxxSPExxK; dots), WK (SPxxWKxxP; diagonal lines), and FPE (FPExxK; grey bar).