Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.R11R
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GFAP

NM_002055.5:p.R11R

Associated Papers

Cortical dysplasia with prominent Rosenthal fiber formation in a case of intractable pediatric epilepsy.

Khanlou N et al.

Human Pathology, 2009

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

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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."