Article

Domain mapping of disease mutations supports genetic testing of specific<i>SORL1</i>variants in familial Alzheimer’s Disease

2023-07-16

Abstract excerpt

<h4>Background</h4> Protein truncating variants (PTVs) in SORL1 are observed almost exclusively in Alzheimer’s Disease (AD) cases, but the effect of rare SORL1 missense variants is unclear. <h4>Methods</h4> To identify high-priority missense variants (HPVs), we applied ‘domain mapping of disease mutations’ on the 637 unique coding SORL1 variants detected in 18,959 AD-cases and 21,893 non-demented controls. <h4>Res...

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Literature Corpus work: e73be4b6-f7ea-564a-a56f-5c981d59116a
DOI: 10.1101/2023.07.13.23292622

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