Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.V115F
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GFAP

NM_002055.5:p.V115F

Associated Papers

Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.

Bachetti T et al.

Molecular Genetics and Metabolism, 2026

Crystal structure of the human glial fibrillary acidic protein 1B domain.

Kim B et al.

Biochemical and Biophysical Research Communications, 2018

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."