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329960 RESULTS

APP Y538H

MUTATIONS APP 27326977 GRCh37/hg19 rs45537238 T C Exon 13 Point, Missense Coding Decreased Aβ42 and Aβ40 in cells, without altering Aβ42/Aβ40 ratio. Neuropathology consistent with AD, but not thought to be attributed to this variant. Y538H Alzheimer's Disease:

PSEN1 L166V

MUTATIONS PSEN1 73653576 GRCh37/hg19 C G Exon 6 Point, Missense Coding Unknown; predicted damaging in silico by multiple algorithms. SPECT imaging performed four years after symptom onset showed temporoparietal hypoperfusion. Postmortem evaluation revealed neuropat

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