Varaico: Literature-Extracted Genetic Variants

Gene:RNF19A
Variant:p.R79H
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RNF19A

NM_183419.4:p.R79H

Associated Papers

Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments.

Yang AW et al.

Molecular Biology of the Cell, 2022

CSF and Blood Levels of GFAP in Alexander Disease

Jany PL et al.

Eneuro, 2015

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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."