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Updated: Jun 10, 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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双性误解CEP55变体导致产前MARCH综合征

Li Fu1,2, Yuka Yamamoto2, Rie Seyama2

  • 1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Journal of human genetics
|October 16, 2024
PubMed
概括

在CEP55中,新型化合物异合体变体会导致致命的MARCH综合征. 这项研究报告了第一个影响相同氨基酸的双基误解变体,这对细胞分裂至关重要.

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