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. 2019 Jan 24;9:753. doi: 10.1038/s41598-018-37277-0

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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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Segregation pattern of TopBP1 rs55633281 and its allele frequency in validation cohorts. (a) Segregation pattern of TopBP1 rs55633281 in the whole family of trio 4. Index patient II-2. Symbol key: circle, female; square, male; solid symbols, PAH diagnosis. (b) Allele frequency of TopBP1 rs55633281 in the cohort of IPAH patients (n = 200), TSI (n = 107) and European (n = 503) 1000 Genome Project populations. No differences were found according to chi-square test (p > 0.05). Plots were created using the R software v.3.3.2 (R: A Language and Environment for Statistical Computing, R Core Team, R Foundation for Statistical Computing, Vienna, Austria (2016) https://www.R-project.org).