Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.L235P
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GFAP

NM_002055.5:p.L235P

Associated Papers

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

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

Yoshida T et al.

Journal of Neurology, 2011

Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter.

van der Voorn JP et al.

Neuroradiology, 2009

Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease.

Mignot C et al.

Experimental Cell Research, 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

Unusual variants of Alexander's disease.

van der Knaap MS et al.

Annals of Neurology, 2005

[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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