Genomics

Dataset Information

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SLC9A3R1 variant associated with age-related hearing loss


ABSTRACT: Age-related hearing loss (ARHL) is the most common sensory impairment in the elderly affecting millions of people worldwide. To shed light on the genetics of ARHL, a large cohort of 464 Italian patients has been deeply analyzed at clinical and molecular level. A missense variant in SLC9A3R1 has been identified in two unrelated ARHL patients. A knock-in zebrafish model confirmed the pathogenic effect of the variant.

PROVIDER: EGAS00001003072 | EGA |

REPOSITORIES: EGA

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