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Identification of a Novel Compound Heterozygous Pathogenic Variant in MYO7A Causing Usher Syndrome Type IB in a Chinese Patient: a Case Report

Ya'nan Zhang, Xinyi Guo, Ling Hao,Meihui Tian, Yuan Ma,Yong Tang

JOURNAL OF INTERNATIONAL MEDICAL RESEARCH(2023)

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关键词
MYO7A,Usher syndrome,hereditary deafness,pathogenic variant,whole-exome sequencing,genetic testing
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