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Updated: Jan 15, 2026

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
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A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

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维克萨斯引起的UBA1 M41和复发性功能非M41突变的独特特征

Maki Sakuma1,2, Amy K Wang3, Samuel J Magaziner3

  • 1Munich Leukemia Laboratory, Munich, Germany.

Leukemia
|October 9, 2025
PubMed
概括

人体UBA1突变导致VEXAS综合征. 规范的M41突变主要导致骨髓质疏松性瘤,而非M41突变与其他血液性瘤和共同突变相关,揭示了不同的疾病表型.

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