Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.D131Splc
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TREM2

NM_018965.4:p.D131Splc

Associated Papers

TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.

Kiianitsa K et al.

Brain : a Journal of Neurology, 2024

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

Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study.

Barczak A et al.

Folia Neuropathologica, 2024

TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features.

Samanci B et al.

European Journal of Neurology, 2021

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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."