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Updated: Feb 24, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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一个定制的Fanconi贫血的表型概况:解决现有疾病注释中的差距

Evan Connelly, Bryan Laraway, Kathleen R Mullen

    medRxiv : the preprint server for health sciences
    |February 23, 2026
    PubMed
    概括

    芬科尼贫血 (FA) 诊断得到了新的,全面的人类表型本体学 (HPO) 概况的改进. 这种使用人工智能和专家审查创建的增强型个人资料显著扩展了FA表型数据,以更好地进行临床识别.

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