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. 2020 Sep 28;10:15883. doi: 10.1038/s41598-020-72623-1

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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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Pedigrees of 16 Japanese families with choroideremia. The proband is indicated by an arrow in each family. Affected males are indicated by solid squares and carrier females by a circle with a dot. Unaffected males and females are indicated by open squares and circles. The slash symbol indicates deceased individuals. M: mutation/pathogenic variants.