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. 2023 Aug 3;13:12584. doi: 10.1038/s41598-023-38272-w

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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 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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Pedigrees of the four families, Sanger sequencing traces of the respective POU4F3 variants, and the audiological phenotypes of the affected individuals. The pedigrees of the Sanger sequence chromatograms of the four families, exhibiting segregation of p.Ala189SerfsTer26 in SB218 (a), p.Leu248Pro in SB307 (b), p.Phe293Leu in SB438 (c), and p.Val318Met in SB347 (d). The audiograms of SB218, SB307, and SB438 were associated with moderate NSHL with mid-specific hearing loss configuration, while that of SB347 indicated severe-to-profound NSHL with flat configuration.