@article{article, title = {{Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848}}, publisher = {{Elsevier}}, url = {{https://eprints.whiterose.ac.uk/id/eprint/125931 https://doi.org/10.1016/j.ajhg.2017.12.001 }}, year = {{2018}}, month = {{1}}, author = {{Koczkowska M and Chen Y and Callens T and Gomes A and Sharp A and Johnson S and Hsiao M-C and Chen Z and Balasubramanian M and Barnett CP and Becker TA et al}}, doi = {{10.1016/j.ajhg.2017.12.001}}, volume = {{102}}, journal = {{American Journal of Human Genetics}}, issue = {{1}}, pages = {{69-87}}, note = {{Accessed on 2025/11/06}}}