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Loss of Function

Neurofibromatosis type 1

  • Genotype

    NF1

  • Mechanism

    Loss of Function

  • Phenotype

    Pain sensitivity, Exploratory behavior, Numbness, Avoidance learning, Auditory response, Vision impairment

  • Biomarker

    MBP,GFAP, NGF, Neurofibromin

  • Gene Expression Markers

    KRA, BRAF, MAPK1, CCND1,MKI67, TNF, BDNF

  • Physiology Changes

    Tumor Volume and Cell proliferation rate

  • Histology Grading Endpoint

    Nerve sheath tumors, Increased macrophages and Hyperplasia of schwann cells

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