Varaico: Literature-Extracted Genetic Variants

Gene:CSF2
Variant:p.E110K
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CSF2

NM_000758.4:p.E110K

Associated Papers

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

Steenweg ME et al.

Brain : a Journal of Neurology, 2012

Epitope randomization redefines the functional role of glutamic acid 110 in interleukin-5 receptor activation.

Wu SJ et al.

The Journal of Biological Chemistry, 2000

Molecular Genetics of Type 1 Glycogen Storage Diseases.

Yang Chou J et al.

Trends in Endocrinology and Metabolism: Tem, 1999

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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."