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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study
SIMPLE SUMMARY: Neurofibromatosis type 1 (NF1) is a complex disorder characterized by a multisystem involvement and cancer predisposition. It is caused by genetic variants in NF1, a large tumor suppressor gene encoding a cytoplasmatic protein (neurofibromin) with a regulatory role in essential cellu...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8070780/ https://www.ncbi.nlm.nih.gov/pubmed/33919865 http://dx.doi.org/10.3390/cancers13081879 |