Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.G18V
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GFAP

NM_002055.5:p.G18V

Associated Papers

Progressive Spastic Paraparesis as the Dominant Manifestation of Adolescent-Onset Alexander Disease: Case Report and Literature Review.

Smółka KA et al.

Journal of Clinical Medicine, 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

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Schlüter A et al.

Genome Medicine, 2023

Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.

Heshmatzad K et al.

European Journal of Medical Research, 2022

A novel mutation in the GFAP gene expands the phenotype of Alexander disease.

Casasnovas C et al.

Journal of Medical Genetics, 2019

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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."