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. 2019 Aug 27;9:12387. doi: 10.1038/s41598-019-48448-y

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© The Author(s) 2019

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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Schematic representation of the gene structure and protein domains of (A) CCM1 (KRIT1) and (B) CCM2 in a Chinese population. Each part contained an upper panel and a lower panel. The upper panel contains the genetic structure and exon position and number, and the lower panel contains a corresponding protein product and its specific domain. Each variant is marked with a double-headed arrow, indicating a variant and corresponding amino acid change, respectively. All variants reported previously in the Chinese population are shown, and variants reported in these studies are marked with rectangles.