Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.L755P
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CSF1R

NM_001288705.3:p.L755P

Associated Papers

The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.

Cogan G et al.

Brain : a Journal of Neurology, 2025

41240362 (PubMed )
Supplement: awaf423_supplementary_data.zip › brain-2025-01866-File011.xlsx › Supplementary_table_2

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

Chitu V et al.

The Febs Journal, 2022

A novel mutation in CSF1R associated with hereditary diffuse leukoencephalopathy with spheroids.

Du Q et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

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."