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Published in 2023 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108627
Abstract: Background The triggering receptor expressed on myeloid cell 2 (TREM2) is a major regulator of neuroinflammatory processes in neurodegeneration. To date, the p.H157Y variant of TREM2 has been reported only in patients with Alzheimer’s disease.…
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Keywords:
h157y variant;
presentation;
heterozygous h157y;
variant ... See more keywords
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Published in 2023 at "Brain Sciences"
DOI: 10.3390/brainsci13040642
Abstract: Previously, we reported that H157Y, a rare coding variant on exon 3 of the triggering receptor expressed on myeloid cells 2 gene (TREM2), was associated with Alzheimer’s disease (AD) risk in a Han Chinese population.…
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Keywords:
microglial phagocytosis;
h157y variant;
trem2 h157y;