Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.L90P
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GFAP

NM_002055.5:p.L90P

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

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

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

Li R et al.

Annals of Neurology, 2005

A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P.

Suzuki Y et al.

Brain & Development, 2004

Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease.

Dinopoulos A et al.

Ajnr. American Journal of Neuroradiology, 0

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