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. 2021 Aug 3;12:4680. doi: 10.1038/s41467-021-24852-9

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© The Author(s) 2021

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 — A` Domain structure of SF3B2 with variants identified noted above. Domain annotation based on UniProt accession Q13435. B Pedigrees of kindreds with SF3B2 LOF variants. De novo or transmitted LOF variants are indicated above each pedigree, with stars denoting confirmed de novo variants. ‘+’ represents a wild type allele, and ‘D’ represents the LOF variant in SF3B2 indicated above the pedigree. Individuals with no genotype listed represent those in whom genomic DNA was not available for study.