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...

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Detalles Bibliográficos
Autores principales: Isakov, Ofer, Wallis, Deeann, Evans, D. Gareth, Ben-Shachar, Shay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Research paper
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

Internet

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

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