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. 2023 Feb 13;31(6):654–662. doi: 10.1038/s41431-023-01312-0

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© The Author(s) 2023

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. 3 — Integrative genome viewer screenshot (left panel) showing the normalized number of exome sequence reads of the 11 exons of the PRKN gene (indicated in blue bars, bottom) of six individuals with Parkinson disease (AR23-AR28). Data points below and above the normalized median are in blue and brown, respectively. CNVs affecting one or multiple exons of the PRKN gene are indicated by red boxes. Fidelity of the CNVs was confirmed by Multiplex ligation-dependent probe amplification (MLPA, right panel). Data points within and beyond the thresholds of normal (diploid) are in green/blue and red, respectively. The MLPA probes corresponding to the exons 3–6 are indicated by arrowheads.