Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.G90delFs
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TREM2

NM_018965.4:p.G90delFs

Associated Papers

Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.

Gilani N et al.

Molecular Genetics & Genomic Medicine, 2024

Targeted sequencing approach to identify genetic mutations in Nasu-Hakola disease.

Satoh JI et al.

Intractable & Rare Diseases Research, 2016

The Triggering Receptor Expressed on Myeloid Cells 2: A Molecular Link of Neuroinflammation and Neurodegenerative Diseases.

Walter J

The Journal of Biological Chemistry, 2016

Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family.

Numasawa Y et al.

European Journal of Neurology, 2011

A Japanese case with Nasu-Hakola disease of DAP12 gene mutation exhibiting precuneus hypoperfusion.

Nakamagoe K et al.

Internal Medicine (tokyo, Japan), 2011

Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration.

Fenoglio C et al.

Neuroscience Letters, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."