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331159 RESULTS

PSEN1 L424H

MUTATIONS PSEN1 73685864 GRCh37/hg19 rs63751032 T A g.71075T> A g.87686T> A Exon 12 Point, Missense Coding Increased Aβ42/Aβ40 and Aβ43; decreased Aβ37/Aβ42. Unknown; generalized cerebral atrophy by MRI; diffuse cerebral hypoperfusion by SPECT. L424H Alzheime

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