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. 2024 Jul 27;81(1):316. doi: 10.1007/s00018-024-05335-8

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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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Fig. 6 — Distribution of large-scale gain and losses, and small-scale (intragenic) copy number aberration in ALS related genes. Gain of exon 1 is the most frequent small-scale (intragenic) CNVs found in 5 Definitive ALS genes (C9orf72, CHCHD10, SOD1, TBK1, VCP), 7 Moderate ALS genes and 1 Strong ALS gene in 46% of patients