Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.R258P
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GFAP

NM_002055.5:p.R258P

Associated Papers

Natural History and Prognostic Factors in Pediatric Alexander Disease: A Cohort Study.

Zhang J et al.

Pediatric Neurology, 2026

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

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

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

An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.

Ohnari K et al.

Journal of Neurology, 2007

Propensity for paternal inheritance of de novo mutations in Alexander disease.

Li R et al.

Human Genetics, 2006

Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction.

Gorospe JR et al.

Mental Retardation and Developmental Disabilities Research Reviews, 2006

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.

Li R et al.

Annals of Neurology, 2005

Alexander disease: a leukodystrophy caused by a mutation in GFAP.

Johnson AB

Neurochemical Research, 2004

Alexander disease: putative mechanisms of an astrocytic encephalopathy.

Mignot C et al.

Cellular and Molecular Life Sciences : Cmls, 2004

Alexander's disease: clinical, pathologic, and genetic features.

Johnson AB et al.

Journal of Child Neurology, 2003

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.

Rodriguez D et al.

American Journal of Human Genetics, 2001

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.

Brenner M et al.

Nature Genetics, 2001

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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."