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Updated: Jul 15, 2026

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精确的和自动化的基因型 CFTR 多T/TG通道与CFTR-TIPS

Qiliang Ding1, Christopher D Hofich1, Tifani B Kellogg1

  • 1Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

International journal of molecular sciences
|August 10, 2024
PubMed
概括

一个新的软件工具,CFTR-TIPS,使用桑格测序数据准确地定型了囊性纤维化转膜导电性调节器 (CFTR) 基因的多T/TG通道. 这个免费的,基于网络的工具简化了对临床显著变异的分析,提高了诊断效率.

关键词:
在CFTR中,CFTR是最重要的.桑格尔测序是什么意思囊性纤维化症是什么分子诊断 分子诊断 分子诊断聚-T 拖拉机的使用方法

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