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Updated: Jan 15, 2026

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
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生殖系JAK2 R564Q变体呈现为遗传性血栓细胞瘤:病例报告

Stephanie Franco1,2, Kinga Krawiec3, Piotr Strzalka3

  • 1Department of Medicine, Northwestern Medicine, Chicago, IL, USA.

BJC reports
|October 6, 2025
PubMed
概括

生殖系JAK2 R564Q变异与遗传性血栓细胞瘤 (HT) 相关,这是一个髓增殖性瘤 (MPN) 倾向. 这些案例表明R564Q应该被归类为可能致病的,有助于MPN诊断.

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