Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.A763T
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CSF1R

NM_001288705.3:p.A763T

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

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

Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy.

Lakshmanan R et al.

Neurology. Genetics, 2017

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

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.

Lynch DS et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2016

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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."