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. 2024 Jul 15;14:16302. doi: 10.1038/s41598-024-65439-w

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© The Author(s) 2024

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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Whole genome sequencing (WGS) shows a maternally inherited L1 insertion in the 5′UTR of the AR. (A) Integrative Genomics Viewer (IGV) screenshot showing the hemizygous insertion in the patient, inherited from the heterozygous mother, in the AR 5′UTR. The insertion site is indicated by an arrow. (B) Truncated L1 element in our patient as compared to a full-length L1 element. Individual L1 domains are also depicted in the figure, along with the insertion location in the AR 5′UTR.