Efficacy of Connexin testing in detecting Non-syndromic Sensorineural Hearing Loss in an Indian cohort
Jagannath Kurva, Nalini Bhat, Suresh K. G. Shettigar, Harshada Tawade, Shagufta Shaikh, Anu Ghosh, Susan Cherian
The paper identifies pathogenic mutations in GJB2, GJB3, and GJB6 genes in an Indian cohort with non-syndromic sensorineural hearing loss and finds lower mutation rates compared to other populations.
medRxiv · Jul 30, 2020 · PreprintGenetic & Genomic Medicine