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结核线RTEL1变异在端粒生物学障碍中的变异

Ashley S Thompson1, Marena R Niewisch1,2, Neelam Giri1

  • 1Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, USA.

American journal of medical genetics. Part A
|September 16, 2024
PubMed
概括

端粒延长酶1 (RTEL1) 基因调节者的罕见生殖系变异会导致端粒生物学障碍. 双性RTEL1变体导致严重的童年疾病,而异性变体则导致晚期发病的疾病.

关键词:
RTEL1 在线教育霍耶拉尔 - 赫雷达尔森综合征遗传性皮质障碍 遗传性皮质障碍 是一种先天性疾病.端粒是什么意思 端粒是什么意思端粒生物学障碍 端粒生物学障碍变体策划的变体策划

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