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Presentation of the genes in the familial to sporadic Alzheimer's disease (AD) spectrum. Rare variants (minor allele frequency [MAF] < 1%) associated with familial or sporadic AD by multiple independent studies are shown. All listed genes include heterozygous mutations associated with autosomal dominant AD, except 12S rRNA, which includes heterozygous mtDNA mutations associated with maternal AD. Red box: de novo mutations in PSEN1 and APP have been associated with sporadic AD
