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CSF3R P733T is a deleterious germline variant in acute leukaemia showing gain-of-function-like T618I mutation

Haimin Sun1, Yongmei Zhu2, Jianfeng Li2

  • 1Department of Hematology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

British Journal of Haematology
|January 23, 2024
PubMed
Abstract

No abstract available in PubMed .

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
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