Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.G585Splc
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CSF1R

NM_001288705.3:p.G585Splc

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

Microglia replacement halts the progression of microgliopathy in mice and humans.

Wu J et al.

Science (new York, N.y.), 2025

40638739 (PubMed )
Supplement: science.adr1015_tables_s1_to_s11.zip › science.adr1015_table_s6.xlsx › Clinical_profiles_of_PET

Identification and characterization of a novel intronic splicing mutation in CSF1R-related leukoencephalopathy.

Han Y et al.

Cns Neuroscience & Therapeutics, 2024

The Phenotypic and Genotypic Spectrum of CSF1R-Related Disorder in China.

Wu J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

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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."