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. 2023 Oct 20;16:253. doi: 10.1186/s12920-023-01586-9

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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 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/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 3 — Identification and validation of the CGG repeat expansion in RILPL1. A Genomic position of the CGG repeat expansion in RILPL1. B Estimated repeat counts of the CGG expansion were more than 100 in five patients (III-37, III-39, III-40, III-42 and III-99) and only 30 in three healthy family members (II-8, III-41 and IV-21), as analyzed by long-read whole-genome ONT sequencing platform. C Representative results of RP-PCR analysis showing CGG repeat expansions of affected individuals while not in unaffected family members. D Representative results of AL-PCR analysis showing the numbers of expanded CGG repeats of OPDM individuals in family were ranging from 120 to 177. While in unaffected individuals, 9 units of CGG repeat were detected