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. 2018 Dec 14;3:33. doi: 10.1038/s41525-018-0073-4

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© The Author(s) 2018

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. 2 — Overview of pathogenic variants detected in three studies in an unselected Australian cohort of 191 individuals living with CP. Green slice shows percent of cases resolved by our original WES study.⁸ Grey slice summarizes SNVs (premature terminations codons and splice variants) that affect gene expression.¹⁵ Orange slice summarizes findings from this study