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Updated: Jun 20, 2026

Mosaic Zebrafish Transgenesis for Evaluating Enhancer Sequences
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对中度效应和马赛克的表征分析

Konrad Oexle1,2,3, Michael Zech4,5, Lara G Stühn6,7

  • 1Neurogenetic Systems Analysis Group, Institute of Neurogenomics, Helmholtz Munich, 85764, Neuherberg, Germany. konrad.oexle@helmholtz-muenchen.de.

European journal of human genetics : EJHG
|June 26, 2023
PubMed
概括

改进的DNA甲基化表征增强了变体分类灵敏度,并检测出马赛克状态. 这一进步有助于诊断基因疾病,如KMT2B缺陷 dystonia和卡布基综合征.

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