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Updated: Jul 6, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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一个研究由表观遗传修饰基因变异引起的矮身的基因型和表型

Huakun Shangguan1, Jian Wang2, Jinduan Lin1

  • 1Department of Endocrinology, Genetics and Metabolism, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, 350000, China.

European journal of pediatrics
|January 3, 2024
PubMed
概括

表观遗传机器基因中的遗传变异会导致与矮身和多器官问题相关的门德尔病. 这项研究发现了新的变体和表型,改善了对这些罕见疾病的诊断.

关键词:
表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.基因型 基因型 基因型这些MDEM是MDEMs.现象类型 现象类型人身矮小,身材矮小的人.

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