Confirmatory insights into ELMOD3-associated autosomal dominant non-syndromic hearing loss
Yejin Yun, Minjae Park, Sohyang Jeong, Sung Ho Jung, Sang Yeon Lee
The paper identifies a novel ELMOD3 variant causing autosomal dominant hearing loss and shows its pathogenicity through structural and functional analyses.
medRxiv · Feb 11, 2025 · PreprintGenetic & Genomic Medicine