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卡尔曼综合征:对CHD7错误变体的功能分析显示出异常的RNA分割

Josianne Nunes Carriço1, Catarina Inês Gonçalves1, José Maria Aragüés2

  • 1CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilhã, Portugal.

International journal of molecular sciences
|November 27, 2024
PubMed
概括

对Kallmann综合征患者的基因分析揭示了CHD7基因变异影响RNA拼接. 这项功能性研究将该变种重新归类为可能致病的,有助于基因诊断.

关键词:
CHD7 CHD7 的时间卡尔曼综合征是卡尔曼综合征的一种症状.这就是VUS VUS VUS.遗传性性性性性性性生育能力 生育能力 生育能力 生育能力遗传学 遗传学 遗传学 是一个突变是一种突变.拼接 拼接 拼接 拼接不确定意义的变种.

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