GeneticsInternational Journal of Molecular SciencesPeer-reviewed
Toward the pathogenicity of the SLC26A4 p.C565Y variant using a genetically driven mouse model
Chin-Ju Hu, Yingchang Lu, Ting‐Hua Yang…·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.
9 citations