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. 2020 Jun 23;98(8):1107–1123. doi: 10.1007/s00109-020-01937-4

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© The Author(s) 2020

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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 4 — Analysis of the duplication and gene expression of the THSD1 gene. The scheme shows duplication in 13q14.3 including the THSD1 gene (a). qPCR copy number analysis of this region reveals a heterozygous duplication of the DNA fragment in 1N13 (b). RNA expression analysis using qPCR in index patient 1N13 and three independent 2N and 1N cell lines. The analysis was performed with irradiated (2, 5, 8 Gy) and control (0 Gy) cells at 2 h and 24 h post-treatment (c)