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Relying on the relationship with known disease-causing variants in homologous proteins to predict pathogenicity of <i>SORL1</i> variants in Alzheimer’s disease

2023-02-27

Abstract excerpt

<h4>ABSTRACT</h4> SORL1 encodes the retromer-associated receptor SORLA that functions in endosomal recycling. Rare variants in SORL1 have been associated with Alzheimer’s disease (AD) and rare pathogenic variants are estimated to occur in up to 2.75% of early onset AD patients and in 1.5% of unrelated late onset AD patients. While truncation mutations are observed almost exclusively in AD patients, it is current...

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Literature Corpus work
0c7aebcd-db44-5130-ba4a-ed64be9ed57c
DOI
10.1101/2023.02.27.524103
Open publication

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