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1326 RESULTS

PSEN1 P303L

MUTATIONS PSEN1 73673133 GRCh37 (105) rs147638016 C T Exon 9 Point, Missense Coding Unknown. Unknown. P303L Frontotemporal Dementia: Unclear PathogenicityFrontotemporal Dementia This mutation was identified in a genetic screen of 421 patients in the U.K. with early ...

PSEN1 R42L

MUTATIONS PSEN1 73637542 GRCh37 (105) 3677775281 G T Exon 4 Point, Missense Coding Unknown. Unknown. R42L Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease This mutation was identified in a genetic screen of 757 patients in the U.K. with early ...

Matthew Engel


Albert Einstein College of Medicine
Bronx, United States

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