Article

Evaluating the pathogenicity, stability, and stereochemical effects of variants of unknown significance in TREM2 using orthogonal structural analyses

2025-05-29

Abstract excerpt

Triggering receptor expressed on myeloid cells 2 (TREM2), an immune receptor expressed on the surface of microglia, has been identified through genome-wide association studies to be one of the risk factors in Alzheimer’s disease (AD). Several studies have also identified missense variants of TREM2 to be associated with frontotemporal dementia and Nasu-Hakola disease (NHD). To date, 51 novel missense variants of TR...

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Literature Corpus work: 09a54e39-f073-54ca-9fb0-931f61be6edf
DOI: 10.1101/2025.05.25.656054

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