Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.E69K
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GFAP

NM_002055.5:p.E69K

Associated Papers

A systematic review and meta-analysis of GFAP gene variants in Alexander disease.

Grossi A et al.

Scientific Reports, 2024

39420046 (PubMed )
Supplement: 41598_2024_75383_MOESM2_ESM.xlsx › Suppl._Table_2

A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.

Song X et al.

Molecular Medicine Reports, 2021

Modeling Neurological Disorders with Human Pluripotent Stem Cell-Derived Astrocytes.

Suga M et al.

International Journal of Molecular Sciences, 2019

Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesis.

Brackmann F et al.

Brain & Development, 2018

Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes.

Kondo T et al.

Acta Neuropathologica Communications, 2016

Magnetic resonance spectroscopy in the diagnostic evaluation of brainstem lesions in Alexander disease.

Davison JE et al.

Journal of Child Neurology, 2011

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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."