Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E373K
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DES

NM_001927.4:p.E373K

Associated Papers

Glial fibrillary acidic protein is pathologically modified in Alexander disease.

Lin NH et al.

The Journal of Biological Chemistry, 2024

Propensity for paternal inheritance of de novo mutations in Alexander disease.

Li R et al.

Human Genetics, 2006

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.

Li R et al.

Annals of Neurology, 2005

Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.

Gorospe JR et al.

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."