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Updated: Jul 23, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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迷失在翻译中:在人类基因组组合之间组合基因注释的陷及其对诊断的影响

Mohammed O E Abdallah1,2, Mahmoud Koko3, Raj Ramesar2

  • 1Division of Human Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.

Expert review of molecular diagnostics
|July 14, 2023
PubMed
概括

不一致的基因,在较新的人类基因组组合中重新归类为蛋白质编码,但不是较旧的基因组,通常被忽视. 这影响了临床遗传学,因为许多这些被忽视的基因具有临床相关性.

关键词:
一个合奏,一个合奏.希腊人37 希腊人希腊38年 希腊38年这是下一代测序.临床诊断 临床诊断 临床诊断基因注释 基因注释

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