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Updated: Jul 29, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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整体外体三重体分析揭示了与先天性囊结肠相关的罕见变体

Sonal Gupta1,2, Praveen Mathur3, Ashwani Kumar Mishra4

  • 1Department of Biotechnology and Bioinformatics, Birla Institute of Scientific Research (BISR), Statue Circle, Jaipur 302021, India.

Children (Basel, Switzerland)
|May 27, 2023
PubMed
概括

研究人员在TAF1B,MUC5B和FRG1中发现了罕见的遗传变异,与先天性肠囊 (CPC) 相关,这是一种罕见的直肠形. 这一发现可能会导致CPC的新治疗干预措施.

关键词:
生产性袋结肠结肠是什么意思错误的意义变体的变体三元体外的三元体外整体外基因组测序的测序

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