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Updated: Jul 21, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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澳大利亚罕见病注册和数据库的现状:一个范围审查

Rasa Ruseckaite1, Chethana Mudunna2, Marisa Caruso2

  • 1Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, VIC, 3004, Australia. rasa.ruseckaite@monash.edu.

Orphanet journal of rare diseases
|July 27, 2023
PubMed
概括

澳大利亚需要对罕见病登记处 (RDRs) 采取协调的国家方法,以改善数据收集和患者的治疗结果. 这次审查发现现有的RDR存在显著的异质性,突出了差距和增强的机会.

关键词:
最少的数据集是最小的数据集.国家方法的国家方法.患者的治疗结果.罕见疾病是一种罕见的疾病.登记处 登记处 登记处 登记处

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