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331209 RESULTS

PSEN1 F105C

MUTATIONS PSEN1 73637731 GRCh37/hg19 T G Exon 4 Point, Missense Coding Decreased Aβ (37 + 38 + 40) / (42 + 43) ratio. Unknown; neuroimaging showed enlarged ventricles and atrophy in the hippocampus and frontotemporal regions. F105C Alzheimer's Disease: Pathoge

PSEN1 L248P

MUTATIONS PSEN1 73659546 GRCh37/hg19 T C Exon 7 Point, Missense Coding   Increased Aβ42/Aβ40 and decreased Aβ37/Aβ42 in cultured cells. Unknown. L248P Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was identified in a family from mainlan

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