Neurofibromatosis type 1 (NF1) is a tumor‐predisposition disorder that arises due to pathogenic variants in tumor suppressor NF1. NF1 has variable expressivity that may be due, at least in part, from heritable elements such as modifier genes; however, few genetic modifiers have been identified to date.

中文翻译：

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1型神经纤维瘤病中cafe-au-lait黄斑数的全基因组关联研究

1型神经纤维瘤病（NF1）是一种由于肿瘤抑制因子NF1中的致病性变异而引起的肿瘤易感性疾病。NF1具有可变表达，这至少部分地是由于可遗传元件（例如修饰基因）引起的。然而，迄今为止，几乎没有发现遗传修饰剂。