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Matches in SemOpenAlex for { <https://semopenalex.org/work/W2769771857> ?p ?o ?g. }

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• W2769771857 abstract "Nasu-Hakola disease (NHD), also known as polycystic lipomembranous osteodysplasia and sclerosing leukoencephalopathy, is an autosomal recessive disorder characterized by dementia and multifocal bone cysts. NHD is associated with the loss-of-function mutation of triggering receptor expressed on myeloid cells-2 gene ( TREM2 ), leading to an aberrant form of TREM2.1" @default.
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• W2769771857 date "2017-11-15" @default.
• W2769771857 modified "2023-09-27" @default.
• W2769771857 title "Evidence of CNS β-amyloid deposition in Nasu-Hakola disease due to the <i>TREM2</i> Q33X mutation" @default.
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• W2769771857 doi "https://doi.org/10.1212/wnl.0000000000004747" @default.
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