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在现实世界实践中探索有针对性的MECP2测试的临床实用性

Soo Yeon Kim1, Hyewon Woo2, Byung Chan Lim3

  • 1Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.

Pediatric neurology
|September 10, 2024
PubMed
概括

针对性MECP2基因测试对于诊断神经发育迟缓的女性雷特综合征 (RTT) 非常有效. 即使没有经典症状,早期测试也有助于早期诊断和管理MECP2相关疾病.

关键词:
人类 人类 人类 人类 人类这是一种MECP2蛋白质.甲基-CpG-结合域域 甲基-CpG-结合域患者的选择患者的选择雷特综合征是什么意思 雷特综合征是什么意思

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相关概念视频

Multiple Comparison Tests01:13

Multiple Comparison Tests

Multiple comparison test, abbreviated as MCT, is a post hoc analysis generally performed after comparing multiple samples with one or more tests. An MCT will help identify a significantly different sample among multiple samples or a factor among multiple factors.
It would be easy to compare two samples using a significance alpha level of 0.05. In other words, there is only one sample pair to be compared. However, it would be difficult to identify a significantly different sample if the number...