Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.K586*
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CSF1R

NM_001288705.3:p.K586*

Associated Papers

CSF1R-related disorder: A clinical, imaging and genetic profile review.

Mahale RR et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Adult-Onset Leukoencephalopathy with Axonal Spheroid and Pigmented Glia: Different Histological Spectrums Presented in Autopsy Cases of Siblings and a Surgical Case of Stereotactic Biopsy.

Kwon HJ et al.

Diagnostics (basel, Switzerland), 2023

Clinical and genetic characterization of adult-onset leukoencephalopathy caused by CSF1R mutations.

Tsai PC et al.

Annals of Clinical and Translational Neurology, 2021

Recent Advances in Basic Research for CSF1R-Microglial Encephalopathy.

Wang YL et al.

Frontiers in Aging Neuroscience, 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."