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Updated: Jun 14, 2025

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
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Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

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阴性RAP1B功能增益变体是孤立的血小板缺血和免疫缺陷的基础

Marta Benavides-Nieto1,2,3, Frédéric Adam4, Emmanuel Martin5

  • 1Université Paris Cité, Paris, France.

The Journal of clinical investigation
|September 3, 2024
PubMed
概括

在Ras相关蛋白1B (RAP1B) 中的功能获取变体会导致联合免疫缺陷和血小板狭窄. 一名患者的新型RAP1B变异导致严重的血液问题,通过干细胞移植得到解决.

关键词:
细胞迁移/粘附情况遗传性疾病是一种遗传性疾病.血液学 血液学 血液学免疫学 免疫学 免疫学血小板是血小板的组成部分.

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