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PSEN1 I168dup

MUTATIONS PSEN1 73653584_73653585 GRCh37/hg19--- ATA Exon 6 Duplicaton Coding Unknown, but in silico algorithms (PROVEAN and SIFT)  predicted pathogenicity and CADD score was 20.2. Neuropatholgoy consistent with AD in one case. I168dup Alzheimer's Disease: Not

Evelyn Neil


National Institutes of Health
Bethesda, United States

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