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Updated: Jun 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在患有Diamond Blackfan贫血的个体中,基因型与表型的关联

D Matthew Gianferante1,2, Kyra J W Mendez1, Sarah Cole1,2,3

  • 1Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics National Cancer Institute, NIH, Rockville Bethesda Maryland USA.

EJHaem
|December 18, 2024
PubMed
概括

钻石黑贫血 (DBA) 是一种罕见的遗传疾病,影响红细胞的产生. 这项研究将特定的基因变异与临床特征联系起来,有助于更好地管理DBA患者.

关键词:
钻石黑人粉丝贫血症 钻石黑人的贫血症贫血 贫血 贫血 是一种疾病.基因型 基因型 基因型现象型 现象型 是一种现象型.这是一种核糖体蛋白质蛋白质.

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