A non-coding variant in 5' untranslated region drove up-regulation of Pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans.
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DOI: 10.1093/hmg/ddac223
Abstract: Hereditary hearing loss has a genetic and phenotypic heterogeneity. However, it is still difficult to explain this heterogeneity perfectly with known deafness genes. Here, we report a novel causative gene EPHA10 as well as its… read more here.
Keywords: hearing loss; loss; epha10; coding variant ... See more keywords