Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.A244T
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GFAP

NM_002055.5:p.A244T

Associated Papers

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.

Rodriguez D et al.

American Journal of Human Genetics, 2001

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.

Brenner M et al.

Nature Genetics, 2001

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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."