Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.D78N
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GFAP

NM_002055.5:p.D78N

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

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

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

Yoshida T et al.

European Journal of Neurology, 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

MicroRNA-197 controls ADAM10 expression to mediate MeCP2's role in the differentiation of neuronal progenitors.

Wang YM et al.

Cell Death and Differentiation, 2019

Atypical MRI features in familial adult onset Alexander disease: case report.

Liu Y et al.

Bmc Neurology, 2016

Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.

Tonduti D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016

Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease.

Nam TS et al.

European Journal of Human Genetics : Ejhg, 2015

Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.

Wada Y et al.

Journal of the Neurological Sciences, 2013

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