Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.R52C
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TREM2

NM_018965.4:p.R52C

Associated Papers

Biophysical characterization of TREM2 missense variants implicated in neurodegenerative disease.

Pillai J et al.

Computational and Structural Biotechnology Journal, 2025

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: report of two cases.

Diniz JRG et al.

Dementia & Neuropsychologia, 2025

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

Dash R et al.

Scientific Reports, 2022

Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia.

Soares IFZ et al.

Molecular Genetics & Genomic Medicine, 2020

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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."