Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.R79L
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GFAP

NM_002055.5:p.R79L

Associated Papers

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

Zhang J et al.

Pediatric Neurology, 2026

Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.

Bachetti T et al.

Molecular Genetics and Metabolism, 2026

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

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

Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.

Wada Y et al.

Journal of the Neurological Sciences, 2013

Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.

Zang L et al.

Journal of Human Genetics, 2013

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

Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report.

Franzoni E et al.

Journal of Child Neurology, 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

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

Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L.

Shiroma N et al.

Brain & Development, 2003

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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."