Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.M73I
Back to variants list

GFAP

NM_002055.5:p.M73I

Associated Papers

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

Adult-onset Alexander disease among patients of Jewish Syrian descent.

Anis S et al.

Neurogenetics, 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 case of Alexander disease presented with dystonia of lower limb and decreased dopaminergic uptake in dopamine transporter scintigraphy].

Hayano E et al.

Rinsho Shinkeigaku = Clinical Neurology, 2020

A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease.

Ciammola A et al.

Frontiers in Neurology, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."