遗传诊断的革命：罕见疾病的例证。
The Revolution of Genetic Diagnosis: An Example from Rare Disorders.
机构信息
Genomic Medicine Laboratory UILDM, IRCCS Fondazione Santa Lucia, 00179 Rome, Italy.
出版信息
Genes (Basel). 2024 Oct 15;15(10):1328. doi: 10.3390/genes15101328.
Abstract
Since the advent of DNA sequencing, genetic analyses have been increasingly incorporated into clinical practice to support the diagnosis of rare disorders [...].
摘要
自 DNA 测序技术问世以来，遗传分析已越来越多地被纳入临床实践，以支持罕见疾病的诊断[...]。
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