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通过个性化再评估策略,提高遗传眼部疾病的分子诊断精度

Pedro Moreira Martins1, Inês Figueiredo2, Nuno Cruz2

  • 1Department of Ophthalmology, Unidade Local de Saúde de Gaia e Espinho, Gaia, Porto, Portugal.

Investigative ophthalmology & visual science
|January 30, 2026
PubMed
概括

一个量身定制的再评估策略显著提高了遗传眼睛疾病诊断率. 这种方法,结合更新的基因测试和专家审查,在受影响的家庭中,诊断产量增加了10%以上.

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