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. 2018 May 29;8:8279. doi: 10.1038/s41598-018-26524-z

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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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Frequency of identified variants in Leber congenital amaurosis (LCA)-associated genes in the 34 analysed Japanese families. In total, 19 of the 34 analysed families were shown to carry potential pathogenic variants, of which 16 were found to harbour variants in nine LCA- (Blue) and three other IRD-associated (Red) genes, respectively. The most frequently mutated genes in the analysed cohort were CRB1, NMNAT1, and RPGRIP1.