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Updated: Sep 9, 2025

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RENOVO-NF1准确地预测了NF1误解变异的致病性

Emanuele Bonetti1, Serena Pellegatta2, Nayma Rosati2

  • 1Laboratory of Translational Oncology, European Institute of Oncology IRCCS, Milan, Italy.

Human genomics
|August 31, 2025
PubMed
概括

一个新的计算工具RENOVO-NF1准确地解释了神经纤维瘤1型 (NF1) 变体. 当变种信息最初不足以进行分类时,该工具有助于克服诊断挑战.

关键词:
机器学习神经纤维化一个VUS一种不同的解释

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