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Updated: May 16, 2025

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一种基因型第一方法识别了NF1致病变异的高发病率,具有明显的疾病关联

Anton Safonov1,2, Tomoki T Nomakuchi3, Elizabeth Chao4

  • 1Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Nature communications
|April 1, 2025
PubMed
概括

在NF1基因的致病变体比以前认为的更常见,影响1在1,286个个体. 许多病例涉及马赛克,并与癌症风险增加有关.

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