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Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture
BACKGROUND: Neurofibromatosis type I (NF1) is caused by heterozygous loss-of-function variants in the NF1 gene encoding neurofibromin which serves as a tumor suppressor that inhibits RAS signaling and regulates cell proliferation and differentiation. While, the only well-established functional domai...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197713/ https://www.ncbi.nlm.nih.gov/pubmed/30274822 http://dx.doi.org/10.1016/j.ebiom.2018.09.039 |