Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.T396I
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GFAP

NM_002055.5:p.T396I

Associated Papers

Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.

Bachetti T et al.

Molecular Genetics and Metabolism, 2026

Association Between Rapid Progression, Early Mortality, and Imaging in Neonatal-Onset Alexander Disease.

Schwarz S et al.

Neuropediatrics, 2025

Neurological manifestations and clinical outcomes in pediatric Alexander disease: single-center cohort and identification of novel GFAP variants.

Suthar R et al.

Brain & Development, 2025

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

Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia-The Neonatal Type of Alexander Disease.

Paprocka J et al.

Genes, 2024

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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."