Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.R79S
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GFAP

NM_002055.5:p.R79S

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

Acquisition and Loss of Developmental Milestones and Time to Disease-Related Outcomes in Cerebral Alexander Disease.

Joung J et al.

Journal of Child Neurology, 2023

A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.

Song X et al.

Molecular Medicine Reports, 2021

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

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

Yoshida T et al.

Journal of Neurology, 2011

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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."