Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.V613L
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CSF1R

NM_001288705.3:p.V613L

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

Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

Schmitz AS et al.

Journal of Neurology, 2024

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

Berdowski WM et al.

Acta Neuropathologica, 2022

Three novel mutations in Chinese patients with CSF1R-related leukoencephalopathy.

Chu M et al.

Annals of Translational Medicine, 2021

Insights Into the Role of CSF1R in the Central Nervous System and Neurological Disorders.

Hu B et al.

Frontiers in Aging Neuroscience, 2021

34867307 (PubMed )
Supplement: Table_1.pdf

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."