Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.D395Y
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GFAP

NM_002055.5:p.D395Y

Associated Papers

Glial fibrillary acidic protein is pathologically modified in Alexander disease.

Lin NH et al.

The Journal of Biological Chemistry, 2024

Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity.

Battaglia RA et al.

Elife, 2019

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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."