Article
Frequency of Variants in Mendelian Alzheimer’s Disease Genes within the Alzheimer’s Disease Sequencing Project (ADSP)
2023-10-25
Abstract excerpt
<h4>ABSTRACT</h4> <h4>Background</h4> Prior studies using the ADSP data examined variants within presenilin-2 ( PSEN2 ), presenilin-1 ( PSEN1 ), and amyloid precursor protein ( APP ) genes. However, previously-reported clinically-relevant variants and other predicted damaging missense (DM) variants have not been characterized in a newer release of the Alzheimer’s Disease Sequencing Project (ADSP). <h4>Objective</h...
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Identifiers and source
- Literature Corpus work
- 027e8dfa-8f2e-57f5-b649-563e6727aae4
- DOI
- 10.1101/2023.10.24.23297227
