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
Publicado en:EBioMedicine
Main Authors: Isakov, Ofer, Wallis, Deeann, Evans, D. Gareth, Ben-Shachar, Shay
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2018
Assuntos:
Research paper
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6197713/
https://ncbi.nlm.nih.gov/pubmed/30274822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebiom.2018.09.039
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