SLC9A3R1 variant associated with age-related hearing loss

Study ID Alternative Stable ID Type
EGAS00001003072 Other

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
The dataset contains one BAM file that includes a SLC9A3R1 variant identified in two Italian patients affected by age-related hearing loss. Data have been produced by targeted re-sequencing, using Ion Torrent PGM platform.
Ion Torrent PGM 1

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