SPATC1L variants associated with age-related and hereditary hearing loss

ABSTRACT: Next-Generation Sequencing techniques (i.e, targeted re-sequencing and whole exome sequencing) have been employed for the study of two Italian patients affected by age-related hearing loss and of an Italian family affected by hereditary hearing loss. Data analysis led to the identification of three variants in SPATC1L, associated with the clinical phenotype.

PROVIDER: EGAS00001003047 | EGA |

REPOSITORIES: EGA