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. 2020 Jan 2;21(1):311. doi: 10.3390/ijms21010311

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© 2020 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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Summary of all variants in the gene CDC14A (NM_033312.2, NP_201569.1) that is composed of 15 exons. The dual-specificity phosphatase domain (DSPn) and the core dual-specificity phosphatase domain (DSPc/PTPc) are represented in green and blue bars, respectively. Indicated are the nine previously described mutations (above) and the two newly identified variants in the affected individuals from family 1 and 2 (red, below). The two different phenotypes are indicated with a circle (hearing impairment and male infertility) or triangle (NSHL).