Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.M875I
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CSF1R

NM_001288705.3:p.M875I

Associated Papers

Apolipoprotein E Polymorphism Is Associated with Age of Onset and Neuropathology in Colony Stimulating Factor 1 Receptor-Related Disorder.

Chmiela T et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2026

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

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

Prophylactic effect of chronic immunosuppression in a mouse model of CSF-1 receptor-related leukoencephalopathy.

Chitu V et al.

Glia, 2023

Clinical, genetic, and molecular characteristics in a central-southern Chinese cohort of genetic leukodystrophies.

Li Y et al.

Annals of Clinical and Translational Neurology, 2023

Modeling CSF-1 receptor deficiency diseases - how close are we?

Chitu V et al.

The Febs Journal, 2022

Treatment of CSF1R-Related Leukoencephalopathy: Breaking New Ground.

Tipton PW et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."