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在临床遗传学中转录分析的有效性和影响日常实践

Giovanni Innella1,2, Emanuele Coccia1, Carlotta Pia Cristalli2

  • 1Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.

Clinical genetics
|December 21, 2024
PubMed
概括

将RNA分析整合到遗传检测中有助于分类影响拼接的不确定变异 (VUS). 这种方法将VUS重新归类为致病性,改善了遗传性瘤,神经和先天性疾病的诊断.

关键词:
这就是VUS VUS VUS.拼接 拼接 拼接 拼接转录分析 转录分析

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