Homozygote loss-of-function variants in the human COCH gene underlie hearing loss
Nada Danial‐Farran, Elena Chervinsky, Prathamesh T. Nadar‐Ponniah, Eran Cohen‐Barak, Shahar Taiber, Morad Khayat, Karen B. Avraham, Stavit Allon Shalev
This study investigates a homozygous frameshift variant in the COCH gene, showing it causes loss-of-function through reduced cochlin translation, impacting genetic counseling for carriers.
European Journal of Human Genetics · Sep 16, 2020Peer-reviewedGenetics