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Updated: Sep 12, 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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使用日本基因组数据库对·维勒布兰德因子基因变异的基因型和表型进行比较

Takafumi Akimoto1, Hiroshi Inaba1, Soichi Ogishima2,3

  • 1Department of Laboratory Medicine, Tokyo Medical University, Tokyo, Japan.

Blood vessels, thrombosis & hemostasis
|August 6, 2025
PubMed
概括

大多数·维勒布兰德因子 (VWF) 基因变异,尽管预测了致病性,但在携带者中没有显示疾病. 这项研究强调了·维勒布兰德病 (VWD) 遗传变异中的不完全透率和可变表达性.

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