The p.R206C Mutation in < b > < i > MYO7A < /i > < /b > Leads to Autosomal Dominant Nonsyndromic Hearing Loss

Conclusions and Significance: The recurrent p.R206C variant inMYO7A is pathogenic and is likely in a mutation hot spot or due to a founder effect. Reports of such rare variants in multiple patients or families may facilitate exploitation of its pathogenicity.ORL

Source: ORL - May 19, 2020 Category: ENT & OMF Source Type: research