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. 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/
3. 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/
4. 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/
5. 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/
6. Kallionpää, Roope A, Peltonen, Sirkku, Leppävirta, Jussi, Järveläinen, Hannu, Peltonen, Juha. 2020. Haploinsufficiency of the NF1 gene is associated with protection against diabetes. In Journal of medical genetics, 58, 378-384. doi:10.1136/jmedgenet-2020-107062. https://pubmed.ncbi.nlm.nih.gov/32571896/
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