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Updated: Jul 1, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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通过将系统功能检测结果整合到ACMG基于点的框架中,重新分类具有不确定的意义的ATM误解变体

Helmut Hanenberg1,2, Fan Zhang3, Nikita Malev3

  • 1Department of Pediatrics III, University Children's Hospital Essen, University of Duisburg-Essen, Essen, Germany.

Clinical cancer research : an official journal of the American Association for Cancer Research
|March 19, 2025
PubMed
概括

针对ATM变异的功能测试可以改善癌症风险评估. 这项研究开发了一个系统来分类ATM变体,帮助携带者个性化预防癌症.

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