Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.I84L
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GFAP

NM_002055.5:p.I84L

Associated Papers

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

Bachetti T et al.

Molecular Genetics and Metabolism, 2026

A single nucleotide polymorphism (-250 A/C) of the GFAP gene is associated with brain structures and cerebral blood flow.

Takahashi Y et al.

Psychiatry and Clinical Neurosciences, 2020

A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities.

Bachetti T et al.

Annals of Human Genetics, 2010

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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."