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英国临床实践指南,用于管理具有宪法POT1病原变异的患者

Olga Tsoulaki1,2, D Gareth Evans2,3, Khushboo Sinha4

  • 1St George's University of London, London, UK.

Journal of medical genetics
|May 11, 2025
PubMed
概括

保护端粒1 (POT1) 的生殖系致病变体会导致POT1瘤倾向综合征 (POT1-TPDS). 这项研究提供了终身癌症风险估计和POT1-TPDS的英国管理指南.

关键词:
对疾病的遗传倾向细菌系突变的发生

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