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Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer’s disease
BackgroundPathogenic mutations in PSEN1 are known to cause familial early-onset Alzheimer’s disease (EOAD) but common variants in PSEN1 have not been found to strongly influence late-onset AD (LOAD). The association of rare variants in PSEN1 with LOAD-related endophenotypes has received little atten
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