Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.S398F
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GFAP

NM_002055.5:p.S398F

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

Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.

Lee SH et al.

Bmc Neurology, 2017

Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene.

Di Giovanni M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016

CSF and Blood Levels of GFAP in Alexander Disease

Jany PL et al.

Eneuro, 2015

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.

Yoshida T et al.

Journal of Neurology, 2011

Alexander disease causing mutations in the C-terminal domain of GFAP are deleterious both to assembly and network formation with the potential to both activate caspase 3 and decrease cell viability.

Chen YS et al.

Experimental Cell Research, 2011

[Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene].

Sueda Y et al.

Rinsho Shinkeigaku = Clinical Neurology, 2009

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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."