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Article

NF1germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1

16 Feb 2016

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a common neurogenetic condition characterized by significant clinical heterogeneity. A major barrier to developing precision medicine approaches for NF1 is an incomplete understanding of the factors that underlie its inherent variability. To determine the impact of the germline NF1 gene mutation on the optic gliomas frequently encountered in children with NF1, we developed...

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PMID: 26908603
DOI: 10.1093/hmg/ddw039

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