Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.E374*
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GFAP

NM_002055.5:p.E374*

Associated Papers

Alexander disease causing mutations in the C-terminal domain of GFAP are deleterious both to assembly and network formation with the potential to both activate caspase 3 and decrease cell viability.

Chen YS et al.

Experimental Cell Research, 2011

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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."