Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.Q67_E68Splc
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CSF2

NM_000758.4:p.Q67_E68Splc

Associated Papers

A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease.

Aflaki E et al.

Neurobiology of Disease, 2020

Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Barkhuizen M et al.

Neurochemistry International, 2016

The link between the GBA gene and parkinsonism.

Sidransky E et al.

The Lancet. Neurology, 2012

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.

van der Knaap MS et al.

Annals of Neurology, 2002

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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."