Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.E207V
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GFAP

NM_002055.5:p.E207V

Associated Papers

Adult-Onset Alexander Disease: A Case Report and Literature Review of Glu207 Alterations.

Vallamchetla SK et al.

Cureus, 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 novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.

Kang YR et al.

European Journal of Human Genetics : Ejhg, 2022

Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease.

Amano E et al.

Neurology. Genetics, 2021

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

Song X et al.

Molecular Medicine Reports, 2021

Crystal structure of the human glial fibrillary acidic protein 1B domain.

Kim B et al.

Biochemical and Biophysical Research Communications, 2018

Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor.

Gass JM et al.

The Neurologist, 2017

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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."