SLC9A3R1 variant associated with age-related hearing loss
收藏NIAID Data Ecosystem2026-03-10 收录
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资源简介：
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.EGA study EGAS00001003072
创建时间：
2018-07-10
