volume 22, issue 6, P2789 2021
DOI: 10.3390/ijms22062789
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Chin-Ju Hu, Ying-Chang Lu, Ting-Hua Yang, Yen-Hui Chan, Cheng-Yu Tsai, I-Shing Yu, Shu-Wha Lin, Tien-Chen Liu, Yen-Fu Cheng, Chen-Chi Wu, Chuan-Jen Hsu

Abstract: Recessive variants of the SLC26A4 gene are globally a common cause of hearing impairment. In the past, cell lines and transgenic mice were widely used to investigate the pathogenicity associated with SLC26A4 variants. However, discrepancies in pathogenicity between humans and cell lines or transgenic mice were documented for some SLC26A4 variants. For instance, the p.C565Y variant, which was reported to be pathogenic in humans, did not exhibit functional pathogenic consequences in cell lines. To address the pa…

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