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APOE Haplotype Phasing Using ONT Long-Read Sequencing Reveals Two Common ε3 and ε4 intragenic haplotypes in the Spanish Population

2025-03-25

Abstract excerpt

<h4>Background</h4> The apolipoprotein E ( APOE ) gene is a key genetic determinant of Alzheimer’s disease (AD) risk, with the ε4 allele significantly increasing susceptibility. While the pathogenic effects of the ε4 allele are well established, the functional impact of distinct haplotype configurations within the broader ε3 and ε4 backgrounds remains poorly understood. This study investigates the role of intragen...

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Literature Corpus work: 487c8ca1-e1d3-5c5f-8de2-5689a879d6d3
DOI: 10.1101/2025.03.25.25324541

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