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Updated: Jul 11, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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基于表型相似性的方法用于未解决的罕见疾病的变异优先级:初步方法报告

David Lagorce1, Emeline Lebreton2, Leslie Matalonga3

  • 1INSERM, US14 - Orphanet, Plateforme Maladies Rares, 75014, Paris, France. david.lagorce@inserm.fr.

European journal of human genetics : EJHG
|November 5, 2023
PubMed
概括

这项研究引入了一种使用表型相似性的新方法,以优先考虑罕见疾病 (RD) 的变异. 这种方法有助于诊断未被诊断的遗传疾病的患者,改善诊断时间表.

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