347528 RESULTS
MUTATIONS PSEN1 73640287 GRCh37/hg19 T G 73173579 GRCh38/hg38 T G Exon 5 Coding Increased the Aβ42/Aβ40 ratio due to reduced Aβ40 production in cells. Unknown. F118V Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed information on carrier(s)
MUTATIONS PSEN1 73171023 GRCh37/hg19 T C 73637731 GRCh38/hg38 T C Exon 4 Coding Unknown, but predicted deleterious in silico (PHRED-scaled CADD score = 27.1). Unknown. F105S Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This variant was identifie
PAPER Gordon I, Genis I, Grauer E, Sehayek E, Michaelson DM
PAPER Gordon I, Grauer E, Genis I, Sehayek E, Michaelson DM
PAPER Ueno H, Takahashi Y, Mori S, Kitano E, Murakami S, Wani K, Miyazaki T, Matsumoto Y, Okamoto M, Ishihara T
MUTATIONS PSEN1 73637706 GRCh37/hg19 rs63750852 G A 73170998 GRCh38/hg38 G A Exon 4 Coding Unknown. V97M Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This variant was identified in France in individual(s) who developed Alzheimer’s disease (AD) (
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PAPER Strijkert F, Scheenen ME, Huitema RB, van den Berg E, van Munster BC, Spikman JM
PAPER Bell Z, O'Connor MK, Moo LR
PAPER Liu H, Zhang X, Liu Q
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PAPER Martinez JE, Perales-Puchalt J, Rodriguez MJ, Rosselli M, Salazar C, Marquez DX, Lamar M, Vila-Castelar C, Rascovsky K, O'Bryant S, Vintimilla R, Díaz-Santos M, Velez-Uribe I, Quiroz YT, Llibre-Guerra J, US Consortium of Aging, Dementia, Latino Studies (CADLAS)
PAPER Olofsson HE, Englund E
