Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.Y83Y
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GFAP

NM_002055.5:p.Y83Y

Associated Papers

Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.

Huyghe A et al.

Plos One, 2012

[Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease].

Ma HW et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L.

Shiroma N et al.

Brain & Development, 2003

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."