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Updated: Jul 16, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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在一个有多名癌症患者的家庭中,有两种明显的有害因果变异

Erfan Khorram1, Mohammad A Tabatabaiefar1,2, Mehrdad Zeinalian1

  • 1Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Advanced biomedical research
|September 11, 2023
PubMed
概括

整体外基因组测序确定了两种致病变体,CHEK2 c.538C>T和MLH1 c.844G>A,在一个患有遗传性癌症的伊朗家庭中. 这些变种一起解释了家族的家族性.

关键词:
CHEK2 是一个国家.MLH1 一个问题遗传性癌症综合征遗传性癌症综合征整体外因子测序的测序

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