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. 2022 Dec 13;12:21494. doi: 10.1038/s41598-022-26017-0

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© The Author(s) 2022

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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Variants in the EYS gene. (A) Schematic diagram of the human EYS protein (isoform 4, accession: NM_001292009.2), with 21 EGF-like (blue rectangles), 6 EGF-like calcium-binding (red rectangles), and 5 Laminin-G domains (red hexagons). Novel and reported variants are depicted in red and black, respectively. Types (B) and classification (C) of the detected variants (N = 22). Allele frequency of the detected variants in this cohort (D) and in the general population from ExAC and gnomAD (E).