Article
[Identification of variants in TNNI3 gene in two children with restrictive cardiomyopathy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2021
Jia Lijuan, Chen Yuanying, Hao Chanjuan, Guo Ruolan, Liu Yanjie, Li Wei, Guo Jun, Feng Yingjun
Abstract excerpt
OBJECTIVE: To identify the pathogenesis in two patients of restrictive cardiomyopathy (RCM) using high-throughput sequencing. METHODS: Peripheral blood samples from the two patients and their parents were collected and genomic DNAs were extracted to conduct targeted next generation sequencing or whole exome sequencing. Bioinformation analysis was performed to identify the pathogenic variants in genes associated...
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