The pathogenic roles of the p.R130S prestin variant in DFNB61 hearing loss
S. Takahashi, Y. Zhou, M. A. Cheatham, K. Homma
This study investigates the pathogenic effects of the p.R130S prestin variant in DFNB61 hearing loss, showing it causes progressive outer hair cell loss and reduced motor kinetics.
bioRxiv · Aug 21, 2023Pathology