Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.M73K
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GFAP

NM_002055.5:p.M73K

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

Alexander disease: models, mechanisms, and medicine.

Hagemann TL

Current Opinion in Neurobiology, 2022

Human iPSC-Derived Astrocytes: A Powerful Tool to Study Primary Astrocyte Dysfunction in the Pathogenesis of Rare Leukodystrophies.

Lanciotti A et al.

International Journal of Molecular Sciences, 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

Modeling Neurological Disorders with Human Pluripotent Stem Cell-Derived Astrocytes.

Suga M et al.

International Journal of Molecular Sciences, 2019

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

Ciammola A et al.

Frontiers in Neurology, 2019

An unusual GFAP mutation in a Taiwanese child with infantile Alexander disease.

Liang JS et al.

Pediatrics and Neonatology, 2018

GFAP Mutations in Astrocytes Impair Oligodendrocyte Progenitor Proliferation and Myelination in an hiPSC Model of Alexander Disease.

Li L et al.

Cell Stem Cell, 2018

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.

Yoshida T et al.

Journal of Neurology, 2011

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.

Caroli F et al.

Clinical 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."