Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.I775N
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CSF1R

NM_001288705.3:p.I775N

Associated Papers

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_S5

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

A systematic in-silico functional and structural analysis reveals deleterious missense nsSNPs in the human CSF1R gene.

Malhotra P et al.

Molecular Biology Research Communications, 2025

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

Chitu V et al.

The Febs Journal, 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

Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy.

Tian WT et al.

Translational Neurodegeneration, 2019

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).

Adams SJ et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018

Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.

Konno T et al.

European Journal of Neurology, 2017

27680516 (PubMed )
Supplement: ENE-24-37-s001.docx

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

Rademakers R et al.

Nature Genetics, 2011

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