遇见数据集

ARPC1B deficiency

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NIAID Data Ecosystem2026-03-12 收录
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ARPC1B deficiency is associated with increased radiosensitivity.The arrest of damaged-cells in G2-phase suggests a defective Arp2/3-ARPC1 complex unable to drive DNA double-strand breaks (DSBs) clustering for homology-directed repair (HDR).Radiosensitivity needs to be tested in ARPC1B deficient patients as well as in the increasing number of IEI with cytoskeleton defects to optimize an adequate personalized therapy

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2021-04-10
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