Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.I636N
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CSF1R

NM_001288705.3:p.I636N

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

Clinical Diagnosis and Differential Diagnosis Between CSF1R- and AARS2-Related Leukoencephalopathy.

Mao C et al.

Journal of Molecular Neuroscience : Mn, 2025

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

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

Chitu V et al.

The Febs Journal, 2022

From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R.

Guo L et al.

Journal of Human Genetics, 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

Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy.

Tian WT et al.

Translational Neurodegeneration, 2019

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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."