GeneticsbioRxivPreprint
A novel PLS1 c.981+1G>A variant causes autosomal-dominant hereditary hearing loss in a family via up-regulation of the PI3K-Akt signaling pathway
Liangpu Xu, Xinrui Wang, Jia Li…·Hua Cao
The paper identifies a novel PLS1 variant causing autosomal-dominant hearing loss by inducing exon8 skipping and upregulating the PI3K-Akt pathway in zebrafish.
DOI 10.1101/2022.03.17.484618