Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.E138_A149del0
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GFAP

NM_002055.5:p.E138_A149del0

Associated Papers

A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.

Kang YR et al.

European Journal of Human Genetics : Ejhg, 2022

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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."