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Updated: Sep 17, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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[科恩综合征在儿童中是由VPS13B基因中的复合异构体变异引起的]

Xin Mei1, Xiao-Liang He, Wei-Na Gao1

  • 1College of Medical Technology and Engineering, Henan University of Science and Technology, Luoyang, Henan 471023, China.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
|June 30, 2025
PubMed
概括

科恩综合征 (CS) 的早期诊断至关重要. 本案例研究表明,将临床数据与VPS13B基因的分子分析结合起来,如何提高这种罕见遗传疾病的诊断准确度.

关键词:
孩子孩子孩子孩子孩子孩子科恩综合征是科恩综合征的一种症状.基因型 基因型 基因型现象型 现象型 是一种表现型.这就是VPS13B基因.

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