Articles with "heterozygous h157y" as a keyword



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Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2

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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.… read more here.

Keywords: h157y variant; presentation; heterozygous h157y; variant ... See more keywords