p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
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| Description | scientific article published on 5 November 2014 |
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author: Bruno Dallapiccola Chiara Leoni Katia Margiotti Sandra Giustini Caterina Fusilli Emanuele Agolini Alessandro Bruselles Sara Bargiacchi Marco Tartaglia |
| Publication date | November 5, 2014 |
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