Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.S620Splc
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CSF1R

NM_001288705.3:p.S620Splc

Associated Papers

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

Han Y et al.

Cns Neuroscience & Therapeutics, 2024

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia by a novel mutation of the CSF1R gene.

Ding C et al.

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

Pathogenicity analysis and a novel case report of intronic mutations in CSF1R gene.

Shixing X et al.

Neurocase, 2022

Two Novel Intronic Mutations in the CSF1R Gene in Two Families With CSF1R-Microglial Encephalopathy.

Jiang J et al.

Frontiers in Cell and Developmental Biology, 2022

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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."