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SLC9A3R1 variant associated with age-related hearing loss

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.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001004171 Ion Torrent PGM 1
Publications Citations
Next Generation Sequencing and Animal Models Reveal <i>SLC9A3R1</i> as a New Gene Involved in Human Age-Related Hearing Loss.
Front Genet 10: 2019 142
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