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Updated: Jan 17, 2026

In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression
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In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression

Published on: March 29, 2019

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编辑的角落:揭开深层内部变体的掩护

Matija Rijavec1

  • 1University Clinic of Respiratory and Allergic Diseases Golnik, Golnik, Slovenia; Biotechnical Faculty, University of Ljubljana, Ljubljana, Slovenia.

Gene
|September 24, 2025
PubMed
概括

深层内基变异对于诊断遗传性疾病至关重要,因为整个外体序列测序 (WES) 错过了这些遗传性疾病. 全基因组测序 (WGS) 与拼接试验相结合,可以有效地识别这些致病变体.

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