Article
[Identifications of the novel mutants on MYO7A in a family with non-syndromic hereditary deafness].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Jan 2022
Liu Jia, Ding Yan, Hu Ya
Abstract excerpt
Objective:To identify the deaf-causing mutation by the genetic analysis in a family with non-syndromic hereditary deafness. Methods:Medical history collection, hearing, vision, and genome whole-exome sequencing were performed on the members of the deaf family. Results:Two mutation sites were identified in the MYO7A gene, namely c.1183C>T and 1496T>C, of which c.1183C>T has a small number of foreign literature...
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