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Updated: Apr 24, 2026

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
Published on: August 23, 2024
Shiqiang Qu1,2,3, Peihong Zhang4, Zefeng Xu1,2,3
1State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
A novel TLR8 mutation causing gain-of-function was identified in a patient with chronic neutropenia and oral ulcers. This finding links TLR8 gain-of-function (GOF) to autoimmune myelofibrosis (AIMF), expanding the known spectrum of TLR8-related disorders.
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