HIGHLIGHTS
- who: CLIC et al. from the Administration, United States University of Minnesota Twin Cities have published the research work: Cell-based analysis of variants associated with hearing impairment in two African families, in the Journal: (JOURNAL)
- what: This study provides biological evidence on the pathogenicity of the reported variants using cell models and biological assays. This was supported by the subcellular localization experiment, performed in the present study, which showed that the mutant CLIC5A protein aggregated in perinuclear structures while the wildtype protein was distributed in the cytoplasm of the cell. In this study, investigating . . .
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