Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.T79M
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CSF1R

NM_001288705.3:p.T79M

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

Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy.

Berdowski WM et al.

Acta Neuropathologica, 2022

35713703 (PubMed )
Supplement: 401_2022_2440_MOESM3_ESM.xlsx › ALSP_cases

Adult-onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?

Salsano E et al.

Annals of Clinical and Translational Neurology, 2022

Reply to: Adult-onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?

Lee YC et al.

Annals of Clinical and Translational Neurology, 2022

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

Tsai PC et al.

Annals of Clinical and Translational 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."