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Updated: Sep 15, 2025

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在NF1携带者中调节表型的罕见变异

Elena Pasquinelli1,2, Giulia Casamassima1,2, Giulia Brunelli1,2

  • 1Medical Genetics, University of Siena, Siena, Italy.

Scientific reports
|July 13, 2025
PubMed
概括

额外的遗传变异可能解释神经纤维素瘤类型1 (NF1) 的各种症状. 罕见的DNA修复基因变异与癌症和其他NF1并发症有关,影响疾病表达性.

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