Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.L97P
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GFAP

NM_002055.5:p.L97P

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

Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.

Knuutinen O et al.

Neuropediatrics, 2018

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

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

[An atypical presentation of Infantile Alexander disease lacking macrocephaly].

Esmer C et al.

Boletin Medico Del Hospital Infantil De Mexico, 0

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