相关实验视频

Updated: Mar 1, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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更新的基因和变异的综合资料与先天性性性性性症相关:系统性审查,分类管道和网络分析

Franco G Brunello1,2,3, Sebastián Castro1, Jonathan Zaiat2,3

  • 1Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Gallo 1330, C1425EFD Buenos Aires, Argentina.

Human molecular genetics
|February 27, 2026
PubMed
概括

这项研究通过对因果基因和变异进行分类,完善了对先天性低功率性低功率症 (CHH) 的理解. 一个新的数据库 (CHH_vd) 和管道 (CHH_vip) 改善了变种分类,帮助诊断.

关键词:
人类遗传学人类遗传学这是一种低性性性性性性.这是下一代测序.变种注释 变种注释变种分类的变种分类.

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