Article
Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients.
Molecular genetics & genomic medicine - 1 Apr 2022
Liu Min, Liang Yue, Huang Bixue, Sun Jincangjian, Chen Kaitian
Abstract excerpt
BACKGROUND: Many hearing-impaired patients carry mutations in rare or novel genes undetected in regular genetic hot regions/genes screening. METHODS: We collected clinical and genetic data from subjects with hearing loss who visited our department for genetic counseling. Next-generation sequencing was conducted after 154 deafness-related genes were captured using a designed genes panels in 14 unrelated families...
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