Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.E206_E207Splc
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GFAP

NM_002055.5:p.E206_E207Splc

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

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

Amano E et al.

Neurology. Genetics, 2021

Clinical and radiological characteristics of older-adult-onset Alexander disease.

Yoshida T et al.

European Journal of Neurology, 2021

Susceptibility to pituitary neoplasia related to MEN-1, CDKN1B and AIP mutations: an update.

Karhu A et al.

Human Molecular Genetics, 2007

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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."