Toward the pathogenicity of the SLC26A4 p.C565Y variant using a genetically driven mouse model
Chin-Ju Hu, Yingchang 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
The paper investigates the pathogenicity of the SLC26A4 p.C565Y variant using genetically modified mice, finding it non-pathogenic in mice despite being reported as pathogenic in humans.
International Journal of Molecular Sciences · Mar 10, 2021Peer-reviewedGenetics