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Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disorder that directly affects more than 1 in 3,000 individuals worldwide. It results from mutations of the NF1 gene and shows almost complete penetrance. NF1 patients show high phenotypic variabilities, including cafe-au-lait macules,...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8455870/ https://www.ncbi.nlm.nih.gov/pubmed/34566848 http://dx.doi.org/10.3389/fneur.2021.704639 |