Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.R258C
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GFAP

NM_002055.5:p.R258C

Associated Papers

Genotype-Phenotype Association for 14 GFAP Variants in Alexander Disease.

Messing A et al.

Neurology. Genetics, 2025

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

Alexander disease with a novel GFAP insertion-deletion mutation mimicking progressive supranuclear palsy.

Shiina A et al.

Clinical Neurology and Neurosurgery, 2024

Clinical and radiological characteristics of older-adult-onset Alexander disease.

Yoshida T et al.

European Journal of Neurology, 2021

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

Song X et al.

Molecular Medicine Reports, 2021

Towards genomic database of Alexander disease to identify variations modifying disease phenotype.

Yasuda R et al.

Scientific Reports, 2019

A Novel Mutation in the Adult-Onset Alexander's Disease GFAP Gene.

Zaver DB et al.

Case Reports in Medicine, 2019

Ataxia and autonomic dysfunction as presenting symptoms in late-onset Alexander disease.

Jost M et al.

Neurology. Clinical Practice, 2017

Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature.

Spritzer SD et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2013

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

Yoshida T et al.

Journal of Neurology, 2011

Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients.

Yoshida T et al.

Acta Neurologica Scandinavica, 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."