Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.R376Q
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GFAP

NM_002055.5:p.R376Q

Associated Papers

Self-silencing GFAP missense alleles in familial subclinical Alexander disease: implications for therapy.

Bachetti T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2025

A systematic review and meta-analysis of GFAP gene variants in Alexander disease.

Grossi A et al.

Scientific Reports, 2024

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

Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.

Benzoni C et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2020

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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."