Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.E373D
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GFAP

NM_002055.5:p.E373D

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

A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.

Song X et al.

Molecular Medicine Reports, 2021

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.

Zang L et al.

Journal of Human Genetics, 2013

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

Yoshida T et al.

Journal of Neurology, 2011

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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."