Varaico: Literature-Extracted Genetic Variants

Gene:TYROBP
Variant:p.V55L
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TYROBP

NM_003332.4:p.V55L

Associated Papers

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Khani M et al.

Molecular Neurodegeneration, 2022

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_003

Glial cells and adaptive immunity in frontotemporal dementia with tau pathology.

Hartnell IJ et al.

Brain : a Journal of Neurology, 2021

Heterozygous TYROBP deletion (PLOSLFIN) is not a strong risk factor for cognitive impairment.

Kaivola K et al.

Neurobiology of Aging, 2018

Mutations in TYROBP are not a common cause of dementia in a Turkish cohort.

Darwent L et al.

Neurobiology of Aging, 2017

TYROBP genetic variants in early-onset Alzheimer's disease.

Pottier C et al.

Neurobiology of Aging, 2016

Decreased DAP12 expression in natural killer lymphocytes from patients with systemic lupus erythematosus is associated with increased transcript mutations.

Toyabe S et al.

Journal of Autoimmunity, 2004

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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."