1. Fahsold, R, Hoffmeyer, S, Mischung, C, Tinschert, S, Nürnberg, P. . Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. In American journal of human genetics, 66, 790-818. doi:. https://pubmed.ncbi.nlm.nih.gov/10712197/
2. Kehrer-Sawatzki, Hildegard, Cooper, David N. 2021. Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants. In Human genetics, 141, 177-191. doi:10.1007/s00439-021-02410-z. https://pubmed.ncbi.nlm.nih.gov/34928431/
3. Sabbagh, Audrey, Pasmant, Eric, Imbard, Apolline, Parfait, Béatrice, Wolkenstein, Pierre. 2013. NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. In Human mutation, 34, 1510-8. doi:10.1002/humu.22392. https://pubmed.ncbi.nlm.nih.gov/23913538/
4. Wang, Dun, Wen, Xue, Xu, Li-Li, Xiao, Hai-Tao, Xu, Xue-Wen. 2023. Nf1 in heart development: a potential causative gene for congenital heart disease: a narrative review. In Physiological genomics, 55, 415-426. doi:10.1152/physiolgenomics.00024.2023. https://pubmed.ncbi.nlm.nih.gov/37519249/
5. Philpott, Charlotte, Tovell, Hannah, Frayling, Ian M, Cooper, David N, Upadhyaya, Meena. 2017. The NF1 somatic mutational landscape in sporadic human cancers. In Human genomics, 11, 13. doi:10.1186/s40246-017-0109-3. https://pubmed.ncbi.nlm.nih.gov/28637487/
6. Yap, Yoon-Sim, McPherson, John R, Ong, Choon-Kiat, Lee, Ann S G, Callen, David F. . The NF1 gene revisited - from bench to bedside. In Oncotarget, 5, 5873-92. doi:. https://pubmed.ncbi.nlm.nih.gov/25026295/
7. Rasmussen, S A, Friedman, J M. . NF1 gene and neurofibromatosis 1. In American journal of epidemiology, 151, 33-40. doi:. https://pubmed.ncbi.nlm.nih.gov/10625171/
8. Escuder, Anna. . The Wild-Type NF1 Gene: It's a Real Turnoff. In Journal of pediatric ophthalmology and strabismus, 54, 204-205. doi:10.3928/01913913-20170706-01. https://pubmed.ncbi.nlm.nih.gov/28820928/
智鼠故事 
