Articles with "two pathogenic" as a keyword



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Identification of two pathogenic mutations in SORL1 in early-onset Alzheimer’s disease

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Published in 2021 at "Journal of Clinical Neuroscience"

DOI: 10.1016/j.jocn.2021.05.020

Abstract: The sortilin-related receptor 1 (SORL1) gene has been the subject of many studies focusing on frequent polymorphisms, which is associated with increased risk for Alzheimer's Disease (AD). By whole-exome sequencing (WES), we identified two pathogenic… read more here.

Keywords: two pathogenic; early onset; alzheimer disease; disease ... See more keywords