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. 2023 Sep 7;142(10):1429–1449. doi: 10.1007/s00439-023-02595-5

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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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Fig. 1 — Data collection flow diagram. From the 111 publications identified in our initial database search, we analyzed patient-specific data on 422 cases with biallelic OTOF variants across 61 publications, in addition to group data from one publication. OAE otoacoustic emissions, NBHS newborn hearing screening