Genetic analysis using long-read sequencing to overcome the difficulties in VWF gene

Background: Genetic defects in von Willebrand factor (VWF) can lead to von Willebrand disease (VWD). Identifying causative or modifier variants of VWF is crucial for the diagnosis, classification, and clinical management of VWF disorders. However, owing to the length (178 kb) and complexity of VWF a...

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Bibliographic Details
Main Authors: Sheng Ye, Yuka Eura, Masanori Matsumoto, Koichi Kokame
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:Research and Practice in Thrombosis and Haemostasis
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Online Access:http://www.sciencedirect.com/science/article/pii/S2475037925002122
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