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Article

Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture

28 Sept 2018

Abstract excerpt

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 domain in the NF1 protein is the GAP-related domain (GRD), most of the identified non-truncating disease-causing variants...

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PMID: 30274822
DOI: 10.1016/j.ebiom.2018.09.039

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