About Mutations
Background
This database is a repository of genetic variants in genes linked to Alzheimer’s disease (AD). Currently, it includes the three genes (APP, PSEN1, PSEN2) associated with autosomal-dominant AD, plus three genes (APOE, MAPT, and TREM2) with genetic associations with AD and related disorders. The goal is to provide a list of variants that have been reported in the literature, ranging from causative to benign. For each variant, we capture the salient clinical and neuropathologic features, as well as functional effects.
Acknowledgements
We are grateful to the researchers who have provided information and feedback.
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