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. 2023 Oct 21;8:33. doi: 10.1038/s41525-023-00376-7

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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 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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Fig. 1 — Only rare (MAF < 10⁻⁴) likely damaging variants are kept for association analysis. Drevel refers to likely damaging missense variants with REVEL-predicted score above a certain threshold. In the association analysis of the discovery cohort (UKBB), 7 different combinations of variants were tested using the REGENIE linear regression gene-burden test. BSN reached significance and was replicated in the All of Us dataset (N ~ 50,000). Two BSN LoF heterozygotes were identified in Columbia patients.