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Article

Structural variants linked to Alzheimer's disease and other common age-related clinical and neuropathologic traits.

Genome medicine - 4 Mar 2025

Vialle Ricardo A, de Paiva Lopes Katia, Li Yan, Ng Bernard, Schneider Julie A, Buchman Aron S, Wang Yanling, Farfel Jose M, Barnes Lisa L, Wingo Aliza P, Wingo Thomas S, Seyfried Nicholas T, De Jager Philip L, Gaiteri Chris, Tasaki Shinya, Bennett David A

Abstract excerpt

BACKGROUND: Alzheimer's disease (AD) is a complex neurodegenerative disorder with substantial genetic influence. While genome-wide association studies (GWAS) have identified numerous risk loci for late-onset AD (LOAD), the functional mechanisms underlying most of these associations remain unresolved. Large genomic rearrangements, known as structural variants (SVs), represent a promising avenue for elucidating...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40038788
DOI: 10.1186/s13073-025-01444-6
PMCID: PMC11881306

Genes

TMEM106B
CYP2A13
DOCK5
IQCK
LMNTD1
MAPT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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