Article

Monoallelic<i>TYROBP</i>deletion is a novel risk factor for Alzheimer’s disease

2024-05-10

Abstract excerpt

Biallelic loss-of-function variants in TYROBP and TREM2 cause autosomal recessive presenile dementia with bone cysts known as Nasu-Hakola disease (NHD, alternatively polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, PLOSL). Some other TREM2 variants contribute to the risk of Alzheimer’s disease (AD) and frontotemporal dementia, while deleterious TYROBP variants are globally extremely ra...

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Literature Corpus work: ebd31818-e2c0-5dac-a4cb-e858588d67a3
DOI: 10.1101/2024.05.09.24307099

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