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. 2022 May 9;12:7576. doi: 10.1038/s41598-022-11589-8

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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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Identification of rare genetic variants from an undiagnosed rare disease cohort. (a) Gender composition of proband cohort. (b) Age distribution of proband cohort. (c) Prevalence of clinical features associated with selected patients. (d) Frequency of rare variants detected within 100 kb of a TSS. (e) Distance to nearest TSS for detected rare variants.