Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.R47C
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TREM2

NM_018965.4:p.R47C

Associated Papers

Biophysical characterization of TREM2 missense variants implicated in neurodegenerative disease.

Pillai J et al.

Computational and Structural Biotechnology Journal, 2025

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

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

Barczak A et al.

Folia Neuropathologica, 2024

C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort.

Tan YJ et al.

Annals of Clinical and Translational Neurology, 2023

TREM2 risk variants are associated with atypical Alzheimer's disease.

Kim B et al.

Acta Neuropathologica, 2022

Genetic landscape of early-onset dementia in Hungary.

Csaban D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Dynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function.

Dash R et al.

Scientific Reports, 2022

TREM2 coding variants in Slovak Alzheimer's disease patients.

Durmanova V et al.

Journal of Integrative Neuroscience, 2022

Genomics of Alzheimer's disease implicates the innate and adaptive immune systems.

Li Y et al.

Cellular and Molecular Life Sciences : Cmls, 2021

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

Samanci B et al.

European Journal of Neurology, 2021

Novel Optineurin Frameshift Insertion in a Family With Frontotemporal Dementia and Parkinsonism Without Amyotrophic Lateral Sclerosis.

Dominguez J et al.

Frontiers in Neurology, 2021

Systematic Review: Genetic, Neuroimaging, and Fluids Biomarkers for Frontotemporal Dementia Across Latin America Countries.

Duran-Aniotz C et al.

Frontiers in Neurology, 2021

Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement.

Ng ASL et al.

Neurobiology of Aging, 2018

Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression.

Sirkis DW et al.

Acta Neuropathologica Communications, 2016

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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."